Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration.


:A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in DAND5-associated cardiac disease.


Stem Cell Res


Stem cell research


Pars S,Cristo F,Inácio JM,Rosas G,Carreira IM,Melo JB,Mendes P,Martins DS,de Almeida LP,Maio J,Anjos R,Belo JA




Has Abstract


2018-05-01 00:00:00












  • Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene.

    abstract::Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related wit...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Domingo-Prim J,Abad-Morales V,Riera M,Navarro R,Corcostegui B,Pomares E

    更新日期:2019-10-01 00:00:00

  • Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.

    abstract::Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. Pluripotency was confirmed i...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Khudiakov A,Kostina D,Zlotina A,Yany N,Sergushichev A,Pervunina T,Tomilin A,Kostareva A,Malashicheva A

    更新日期:2017-10-01 00:00:00

  • Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

    abstract::We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 51years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1), not associated with deafness. The hiPSCs, generated using f...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Mura M,Ginevrino M,Zappatore R,Pisano F,Boni M,Castelletti S,Crotti L,Valente EM,Schwartz PJ,Gnecchi M

    更新日期:2018-05-01 00:00:00

  • Generation and characterization of two iPSC lines from human epicardium-derived cells.

    abstract::Human epicardium-derived cells (EPDC) were reprogrammed to generate two iPSC lines, MCDU1i-EPDC and MCDU2i-EPDC, by nucleofection of episomal-based plasmids expressing the reprogramming factors OCT4, SOX2, KLF4, c-MYC, NANOG and LIN28. Pluripotency was confirmed in vitro by immunofluorescence analysis and embryoid bod...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Paulitschek C,Schulze-Matz P,Hesse J,Schmidt T,Wruck W,Adjaye J,Schrader J

    更新日期:2017-04-01 00:00:00

  • Establishment of TUSMi007-A, an induced pluripotent stem cell (iPSC) line from an 83-year old Chinese Han patient with Alzheimer's disease (AD).

    abstract::An 83-year old Alzheimer's disease (AD) male patient donated his Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system used to reprogram PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency marker...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Wang Y,Zhang J,Lei Y,Zhao J

    更新日期:2018-12-01 00:00:00

  • Differential regulation of genomic imprinting by TET proteins in embryonic stem cells.

    abstract::TET proteins have been found to play an important role in active demethylation at CpG sites in mammals. There are some reports implicating their functions in removal of DNA methylation imprint at the imprinted regions in the germline. However, it is not well established whether TET proteins can also be involved in dem...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Liu L,Mao SQ,Ray C,Zhang Y,Bell FT,Ng SF,Xu GL,Li X

    更新日期:2015-09-01 00:00:00

  • Generation of non-integrated induced pluripotent stem cells from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome.

    abstract::Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established. The patient has a heterozygous G>T mutation on the exon 9 of Men1 gene that was con...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Guo D,Wu F,Liu H,Gao G,Kou S,Yang F,Abbas N,Zhou T,Cai X,Zhang H,Qin D,Li J,Xu K,Li YX

    更新日期:2017-01-01 00:00:00

  • The (not so) immortal strand hypothesis.

    abstract:BACKGROUND:Non-random segregation of DNA strands during stem cell replication has been proposed as a mechanism to minimize accumulated genetic errors in stem cells of rapidly dividing tissues. According to this hypothesis, an "immortal" DNA strand is passed to the stem cell daughter and not the more differentiated cell...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Tomasetti C,Bozic I

    更新日期:2015-03-01 00:00:00

  • The role of nuclear receptors in the differentiation of oligodendrocyte precursor cells derived from fetal and adult neural stem cells.

    abstract::Oligodendrocyte precursor cells (OPCs) differentiation from multipotent neural stem cells (NSCs) into mature oligodendrocytes is driven by thyroid hormone and mediated by thyroid hormone receptors (TRs). We show that several nuclear receptors display strong changes in expression levels between fetal and adult NSCs, wi...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Baldassarro VA,Krężel W,Fernández M,Schuhbaur B,Giardino L,Calzà L

    更新日期:2019-05-01 00:00:00

  • Establishment of an induced pluripotent stem cell line (FDEENTi001-A) from a patient with pathological myopia.

    abstract::Pathological myopia (PM) is a retinal degenerative disease with an increasing prevalence in Asia. The peripheral blood mononuclear cells (PBMCs) from a patient with PM were successfully reprogrammed to induced pluripotent stem cells (iPSCs) using integration-free method, Sendai viral (SeV) vectors expressing OCT4, SOX...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Bai X,Yang X,Cheng Y,Chen L

    更新日期:2019-01-01 00:00:00

  • Cholesterol-derived glucocorticoids control early fate specification in embryonic stem cells.

    abstract::Aside from its role in cell membrane integrity, cholesterol is a key component in steroid hormone production. The vital functions of steroid hormones such as estrogen, testosterone, glucocorticoids (Gcrts) and mineralocorticoids (Mnrts) in perinatal and adult life are well understood; however, their role during early ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Cabral-Teixeira J,Martinez-Fernandez A,Cai W,Terzic A,Mercola M,Willems E

    更新日期:2015-07-01 00:00:00

  • The HOX Code as a "biological fingerprint" to distinguish functionally distinct stem cell populations derived from cord blood.

    abstract::Mesenchymal stem cells (MSC) have been isolated from almost every adult tissue. In cord blood (CB), different non-hematopoietic CD45-, CD34- adherent cell populations can be generated: the cord blood derived MSC (CB-MSC), that behave almost like MSC from bone marrow (BM-MSC), and unrestricted somatic stem cells (USSC)...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Liedtke S,Buchheiser A,Bosch J,Bosse F,Kruse F,Zhao X,Santourlidis S,Kögler G

    更新日期:2010-07-01 00:00:00

  • Knockdown of SVCT2 impairs in-vitro cell attachment, migration and wound healing in bone marrow stromal cells.

    abstract::Bone marrow stromal cell (BMSC) adhesion and migration are fundamental to a number of pathophysiologic processes, including fracture and wound healing. Vitamin C is beneficial for bone formation, fracture repair and wound healing. However, the role of the vitamin C transporter in BMSC adhesion, migration and wound hea...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Sangani R,Pandya CD,Bhattacharyya MH,Periyasamy-Thandavan S,Chutkan N,Markand S,Hill WD,Hamrick M,Isales C,Fulzele S

    更新日期:2014-03-01 00:00:00

  • SOX4 inhibits oligodendrocyte differentiation of embryonic neural stem cells in vitro by inducing Hes5 expression.

    abstract::SOX4 has been shown to promote neuronal differentiation both in the adult and embryonic neural progenitors. Ectopic SOX4 expression has also been shown to inhibit oligodendrocyte differentiation in mice, however the underlying molecular mechanisms remain poorly understood. Here we demonstrate that SOX4 regulates trans...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Braccioli L,Vervoort SJ,Puma G,Nijboer CH,Coffer PJ

    更新日期:2018-12-01 00:00:00

  • Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.

    abstract::Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of t...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Neureiter A,Brändl B,Hiber M,Tandon R,Müller FJ,Steenpass L

    更新日期:2018-12-01 00:00:00

  • Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.

    abstract::Among the known causative genes of familial ALS, SOD1mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not as yet clear. What is known is that mutant-mediated toxicity is not c...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: D'Anzi A,Altieri F,Perciballi E,Ferrari D,Bernardini L,Goldoni M,Mazzini L,De Marchi F,Di Pierro A,D'Alfonso S,Gelati M,Vescovi AL,Rosati J

    更新日期:2020-07-25 00:00:00

  • Identification of a candidate stem cell in human gallbladder.

    abstract::There are currently no reports of identification of stem cells in human gallbladder. The differences between human gallbladder and intrahepatic bile duct (IHBD) cells have also not been explored. The goals of this study were to evaluate if human fetal gallbladder contains a candidate stem cell population and if fetal ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Manohar R,Li Y,Fohrer H,Guzik L,Stolz DB,Chandran UR,LaFramboise WA,Lagasse E

    更新日期:2015-05-01 00:00:00

  • Cardiac regeneration based on mechanisms of cardiomyocyte proliferation and differentiation.

    abstract::Cardiomyocyte proliferation and progenitor differentiation are endogenous mechanisms of myocardial development. Cardiomyocytes continue to proliferate in mammals for part of post-natal development. In adult mammals under homeostatic conditions, cardiomyocytes proliferate at an extremely low rate. Because the mechanism...

    journal_title:Stem cell research

    pub_type: 杂志文章,评审


    authors: Senyo SE,Lee RT,Kühn B

    更新日期:2014-11-01 00:00:00

  • The contribution of human/non-human animal chimeras to stem cell research.

    abstract::Chimeric animals are made up of cells from two separate zygotes. Human/non-human animal chimeras have been used for a number of research purposes, including human disease modeling. Pluripotent stem cell (PSC) research has relied upon the chimera approach to examine the developmental potential of stem cells, to determi...

    journal_title:Stem cell research

    pub_type: 杂志文章,评审


    authors: Levine S,Grabel L

    更新日期:2017-10-01 00:00:00

  • Transgenic human ES and iPS reporter cell lines for identification and selection of pluripotent stem cells in vitro.

    abstract::Optimization of pluripotent stem cell expansion and differentiation is facilitated by biological tools that permit non-invasive and dynamic monitoring of pluripotency, and the ability to select for an undifferentiated input cell population. Here we report on the generation and characterisation of clonal human embryoni...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Ovchinnikov DA,Titmarsh DM,Fortuna PR,Hidalgo A,Alharbi S,Whitworth DJ,Cooper-White JJ,Wolvetang EJ

    更新日期:2014-09-01 00:00:00

  • Reprogramming of mouse amniotic fluid cells using a PiggyBac transposon system.

    abstract::Induced pluripotent stem (iPS) cells are generated from mouse and human somatic cells by forced expression of defined transcription factors using different methods. Amniotic fluid (AF) cells are easy to obtain from routinely scheduled procedures for prenatal diagnosis and iPS cells have been generated from human AF. H...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Bertin E,Piccoli M,Franzin C,Nagy A,Mileikovsky M,De Coppi P,Pozzobon M

    更新日期:2015-11-01 00:00:00

  • Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.

    abstract::Friedreich's ataxia is caused by large homozygous, intronic expansions of GAA repeats in the frataxin (FXN) gene, resulting in severe downregulation of its expression. Pathogenic repeats are located in intron one, hence patients express unaffected FXN protein, albeit in low quantities. Although FRDA symptoms typically...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Li J,Rozwadowska N,Clark A,Fil D,Napierala JS,Napierala M

    更新日期:2019-10-01 00:00:00

  • Promotion of hematopoietic differentiation from mouse induced pluripotent stem cells by transient HoxB4 transduction.

    abstract::Ectopic expression of HoxB4 in embryonic stem (ES) cells leads to an efficient production of hematopoietic cells, including hematopoietic stem/progenitor cells. Previous studies have utilized a constitutive HoxB4 expression system or tetracycline-regulated HoxB4 expression system to induce hematopoietic cells from ES ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Tashiro K,Kawabata K,Omori M,Yamaguchi T,Sakurai F,Katayama K,Hayakawa T,Mizuguchi H

    更新日期:2012-03-01 00:00:00

  • Comparative transcriptome analysis in induced neural stem cells reveals defined neural cell identities in vitro and after transplantation into the adult rodent brain.

    abstract::Reprogramming technology enables the production of neural progenitor cells (NPCs) from somatic cells by direct transdifferentiation. However, little is known on how neural programs in these induced neural stem cells (iNSCs) differ from those of alternative stem cell populations in vitro and in vivo. Here, we performed...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Hallmann AL,Araúzo-Bravo MJ,Zerfass C,Senner V,Ehrlich M,Psathaki OE,Han DW,Tapia N,Zaehres H,Schöler HR,Kuhlmann T,Hargus G

    更新日期:2016-05-01 00:00:00

  • CD71(high) population represents primitive erythroblasts derived from mouse embryonic stem cells.

    abstract::The CD71/Ter119 combination has been widely used to reflect dynamic maturation of erythrocytes in vivo. However, because CD71 is expressed on all proliferating cells, it is unclear whether it can be utilized as an erythrocyte-specific marker during differentiation of embryonic stem cells (ESCs). In this study, we reve...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Chao R,Gong X,Wang L,Wang P,Wang Y

    更新日期:2015-01-01 00:00:00

  • Impact of transient down-regulation of DREAM in human embryonic stem cell pluripotency: The role of DREAM in the maintenance of hESCs.

    abstract::Little is known about the functions of downstream regulatory element antagonist modulator (DREAM) in embryonic stem cells (ESCs). However, DREAM interacts with cAMP response element-binding protein (CREB) in a Ca(2+)-dependent manner, preventing CREB binding protein (CBP) recruitment. Furthermore, CREB and CBP are inv...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Fontán-Lozano A,Capilla-Gonzalez V,Aguilera Y,Mellado N,Carrión AM,Soria B,Hmadcha A

    更新日期:2016-05-01 00:00:00

  • Stage-specific roles of FGF2 signaling in human neural development.

    abstract::This study elucidated the stage-specific roles of FGF2 signaling during neural development using in-vitro human embryonic stem cell-based developmental modeling. We found that the dysregulation of FGF2 signaling prior to the onset of neural induction resulted in the malformation of neural rosettes (a neural tube-like ...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Grabiec M,Hříbková H,Vařecha M,Střítecká D,Hampl A,Dvořák P,Sun YM

    更新日期:2016-09-01 00:00:00

  • Repair of acute liver damage with immune evasive hESC derived hepato-blasts.

    abstract::Human embryonic stem cells (hESCs) can undergo unlimited self-renewal and differentiate into hepatic cells, including expandable hepato-blasts (HBs) and hepatocyte-like cells (HLCs) in vitro. Therefore, hESC-derived HBs have the potential to become a renewable cell source for cell therapy of serious liver damage. Howe...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Liu J,Pan T,Chen Y,Liu Y,Yang F,Chen Q,Abbas N,Zhong M,Zhang Q,Xu Y,Li YX

    更新日期:2020-12-01 00:00:00

  • CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability.

    abstract::Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Meng J,Muntoni F,Morgan J

    更新日期:2018-07-01 00:00:00

  • Scalable expansion of human induced pluripotent stem cells in the defined xeno-free E8 medium under adherent and suspension culture conditions.

    abstract::Large-scale production of human induced pluripotent stem cells (hiPSCs) by robust and economic methods has been one of the major challenges for translational realization of hiPSC technology. Here we demonstrate a scalable culture system for hiPSC expansion using the E8 chemically defined and xeno-free medium under eit...

    journal_title:Stem cell research

    pub_type: 杂志文章


    authors: Wang Y,Chou BK,Dowey S,He C,Gerecht S,Cheng L

    更新日期:2013-11-01 00:00:00