Derivation of mouse embryonic stem cell lines from tyrosine hydroxylase reporter mice crossed with a human SNCA transgenic mouse model of Parkinson's disease.

abstract：:OCT4 is a highly conserved gene and plays an important role during early embryonic development and differentiation. Similar to human OCT4, mouse Oct4 gene generates variants. Oct4A is a master regulator of self-renewal in pluripotent stem cells. In this study, we have identified a novel Oct4 spliced variant, designate...

journal_title：Stem cell research

authors： Guo CL,Liu L,Jia YD,Zhao XY,Zhou Q,Wang L

更新日期：2012-09-01 00:00:00

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

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

abstract：:Insulin-like growth factor 1 (IGF-1) plays an important role in the regulation of tooth root development, and stem cells from apical papilla (SCAPs) are responsible for the formation of root pulp and dentin. To date, it remains unclear whether IGF-1 can regulate the function of SCAPs. In this study, SCAPs were isolate...

journal_title：Stem cell research

authors： Wang S,Mu J,Fan Z,Yu Y,Yan M,Lei G,Tang C,Wang Z,Zheng Y,Yu J,Zhang G

更新日期：2012-05-01 00:00:00

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

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

abstract：:BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 ...

journal_title：Stem cell research

authors： Griscelli F,Oudrhiri N,Feraud O,Divers D,Portier L,Turhan AG,Bennaceur Griscelli A

更新日期：2017-10-01 00:00:00

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

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

abstract：:Two iPSC clones, NCCSi008-A and NCCSi008-B, were generated from a healthy male individual of Indian origin by reprogramming his CD4+ T cells with an integration free Sendai viral vector. The established iPSC clones showed high alkaline phosphatase (ALP) activity, expression of pluripotency markers, a normal male karyo...

journal_title：Stem cell research

authors： Vaidyanath A,Khan M,Shiras A

更新日期：2020-05-01 00:00:00

abstract：:Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi059A,...

journal_title：Stem cell research

authors： Kuebler B,Aran B,Flores R,Pérez-Jurado LA,Veiga A,Corominas R,Cuscó I

更新日期：2020-12-01 00:00:00

abstract：:Fanconi anemia is a genetic bone marrow failure syndrome. The current treatment options are suboptimal and do not prevent the eventual onset of aplastic anemia requiring bone marrow transplantation. We previously showed that resveratrol, an antioxidant and an activator of the protein deacetylase Sirt1, enhanced hemato...

journal_title：Stem cell research

authors： Zhang QS,Deater M,Schubert K,Marquez-Loza L,Pelz C,Sinclair DA,Grompe M

更新日期：2015-07-01 00:00:00

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

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

abstract：:SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chin...

journal_title：Stem cell research

authors： Cheng YF,Chan YH,Hu CJ,Lu YC,Saeki T,Hosoya M,Saegusa C,Fujioka M,Okano H,Weng SM,Hsu CJ,Chang KH,Wu CC

更新日期：2019-10-01 00:00:00

abstract：:A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The...

journal_title：Stem cell research

authors： Kuebler B,Aran B,Miquel-Serra L,Muñoz Y,Ars E,Bullich G,Furlano M,Torra R,Marti M,Veiga A,Raya A

更新日期：2017-12-01 00:00:00

abstract：:The human transcription factor NKX2-5 plays an important role in cardiac formation and development, and thus it can be used for isolation of cardiomyocytes (CMs) differentiated from human pluripotent stem cells (hPSCs). Here, we knocked-in enhanced GFP (eGFP) and Pac (a puromycin resistant gene; PuroR) into the exon 1...

journal_title：Stem cell research

authors： Zhou M,Wei R,Jiang Y,Fu J,Liu Y,Yang B,Yu B,Lin Y,Ran X,Lai WH,Chu M,Hu Y,Yang J,Tse HF

更新日期：2020-12-10 00:00:00

abstract：:Leucine rich repeat kinase (LRRK2) is the most prevalent genetic cause for Parkinson's disease. LRRK2 p.G2385R is an Asian specific genetic risk factor for sporadic Parkinson's disease. We generated two induced pluripotent stem cells (iPSCs), IBMS-iPSC-018-09 and IBMS-iPSC-020-01, from the peripheral blood mononuclear...

journal_title：Stem cell research

authors： Cheng YC,Huang CY,Ho MC,Hsu YH,Syu SH,Lu HE,Lin HI,Lin CH,Hsieh PCH

更新日期：2018-04-01 00:00:00

abstract：:X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene. A human-induced pluripotent s...

journal_title：Stem cell research

authors： Sun L,Zhang J,Kuang XY,Kang YL,Wu Y,Huang WY

更新日期：2020-05-01 00:00:00

abstract：:Many studies have compared the genetic and epigenetic profiles of human induced pluripotent stem cells (hiPSCs) to human embryonic stem cells (hESCs) and yet the picture remains unclear. To address this, we derived a population of neural precursor cells (NPCs) from the H1 (WA01) hESC line and generated isogenic iPSC l...

journal_title：Stem cell research

authors： Mallon BS,Hamilton RS,Kozhich OA,Johnson KR,Fann YC,Rao MS,Robey PG

更新日期：2014-03-01 00:00:00

abstract：:Members of the Fanconi anemia (FA) protein family are involved in multiple cellular processes including response to DNA damage and oxidative stress. Here we show that a major FA protein, Fancd2, plays a role in mitochondrial biosynthesis through regulation of mitochondrial translation. Fancd2 interacts with Atad3 and ...

journal_title：Stem cell research

authors： Chatla S,Du W,Wilson AF,Meetei AR,Pang Q

更新日期：2019-10-01 00:00:00

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

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

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

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

abstract：:Human embryonic stem (hES) cells have the dual ability to self-renew and differentiate into specialized cell types. However, in order to realize the full potential of these cells it is important to understand how the genes responsible for their unique characteristics are regulated. In this study we examine the regulat...

journal_title：Stem cell research

authors： Fong H,Wong RC,Donovan PJ

更新日期：2012-03-01 00:00:00

abstract：:Tumor protein p63 (p63) encodes for a transcription factor of the p53 family and is a marker for respiratory basal cells. Based on a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (hiPSCs) (MHHi06-A-2) we established a NKX2.1/p63 double transgenic knock-in reporter cell line using TALEN t...

journal_title：Stem cell research

authors： Drick N,Sahabian A,Pongpamorn P,Merkert S,Göhring G,Welte T,Martin U,Olmer R

更新日期：2020-01-01 00:00:00

abstract：:The long QT syndrome type 3 (LQT3) is currently the 3rd most prevalent of the 15 known types of LQT syndrome. Cardiac events in LQT3 are less frequent than LQT1 and LQT2, but more likely to be fatal. LQT3 is caused by mutation in gene SCN5A, which codes for the Nav1.5 Na+ channel. Herein, we have generated a human emb...

journal_title：Stem cell research

authors： Yang X,Wu F,Zhong J,Li F

更新日期：2021-01-25 00:00:00

abstract：:Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnf...

journal_title：Stem cell research

authors： Sun Y,Zhou X,Chen J,Du J,Lu G,Lin G,Ouyang Q

更新日期：2016-11-01 00:00:00

abstract：:Skin fibroblasts were collected from a 65-year-old male patient with sporadic Parkinson's disease. Induced pluripotent stem cells were reprogrammed with human reprogramming factors (KMOSL) using the messenger RNA reprogramming protocol. The transgene-free iPSC line showed pluripotency, displayed normal karyotype, and ...

journal_title：Stem cell research

authors： Zheng X,Zhu Z,Chen K,Guo S,Liu T,Liu H

更新日期：2017-08-01 00:00:00

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

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

abstract：:A skin biopsy was obtained from a 14-year-old female patient with a history of Myelomeningocele. Dermal fibroblasts were isolated and reprogrammed with Sendai virus (SeV) vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. The generated induced Pluripotent Stem Cell (iPSC) clones NTDi4_09A were free of genomically integra...

journal_title：Stem cell research

authors： Wang H,Zhao S,Finnell RH,George T,Cooney AJ

更新日期：2018-08-01 00:00:00

abstract：:Liver progenitor (oval) cells have enormous potential in the treatment of patients with liver disease using a cell therapy approach, but their use is limited by their scarcity and the number of donor livers from which they can be derived. Bone marrow may be a suitable source. Previously the derivation of oval cells fr...

journal_title：Stem cell research

authors： Tonkin JN,Knight B,Curtis D,Abraham LJ,Yeoh GC

更新日期：2008-09-01 00:00:00

abstract：:The future application of human embryonic stem cells (hESC) for therapeutic approaches requires the development of xeno-free culture conditions to prevent the potential transmission of animal pathogens or xenobiotic substances to hESC. An important component of the majority of hESC culture systems developed is the req...

journal_title：Stem cell research

authors： Kibschull M,Mileikovsky M,Michael IP,Lye SJ,Nagy A

更新日期：2011-01-01 00:00:00

abstract：:Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associ...

journal_title：Stem cell research

authors： Pongpamorn P,Dahlmann J,Haase A,Ebeling CT,Merkert S,Göhring G,Lachmann N,Martens A,Haverich A,Martin U,Olmer R

更新日期：2020-03-01 00:00:00

abstract：:We generated an induced human pluripotent stem cell line from a child with microcephaly carrying compound heterozygous mutations of TYW1 inherited from healthy parents. This iPS cell line showed typical embryonic stem cell-like morphology, expressed pluripotent markers that comparable to human embryonic stem cells. Mo...

journal_title：Stem cell research

authors： Sun C,Zhou P,Yuan S,Guo R,Zhang Z,Xu Q,Han D,He L,Tang H,Xu K,Hu H,Li N

更新日期：2020-05-01 00:00:00