abstract：:Primary hepatocyte transplantation (HTx) is a safe cell therapy for patients with liver disease, but wider application is circumvented by poor cell engraftment due to limitations in hepatocyte quality and transplantation strategies. Hepatocyte-like cells (HLCs) derived from human induced pluripotent stem cells (hiPSC)...

journal_title：Stem cell research

authors： Ashmore-Harris C,Blackford SJ,Grimsdell B,Kurtys E,Glatz MC,Rashid TS,Fruhwirth GO

更新日期：2019-12-01 00:00:00

abstract：:ATOX1 is a copper chaperone involved in intracellular copper homeostasis, cell proliferation, and tumor progression. To investigate the physiologically relevant molecular mechanism of ATOX1 by using imaging-based approaches, we genetically modified ATOX1 in H1 hESCs to express mCherry-ATOX1 fusion protein under endoge...

journal_title：Stem cell research

authors： Wen MH,Xie X,Tu J,Lee DF,Chen TY

更新日期：2019-12-01 00:00:00

abstract：:Asparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development, seizures, and hyperekple...

journal_title：Stem cell research

authors： Yingjun X,Dian L,Ding W,Shaoying L,Yinghong Y,Nengqing L,Xiaofang S

更新日期：2019-12-01 00:00:00

abstract：:Human teratoma is a germ cell tumor that contains normal tissues (e.g., hair, skin or cartilage) differentiated from embryonal germ layers. Because of the feature of this tumor, we hypothesized that human teratomas contain multipotent stem cells that can develop into various non-cancerous normal tissues. In this study...

journal_title：Stem cell research

authors： Kim K,Higashi M,Fumino S,Tajiri T

更新日期：2019-12-01 00:00:00

abstract：:Salisphere-derived adult epithelial cells have been used to improve saliva production of irradiated mouse salivary glands. Importantly, optimization of the cellular composition of salispheres could improve their regenerative capabilities. The Rho Kinase (ROCK) inhibitor, Y27632, has been used to increase the prolifera...

journal_title：Stem cell research

authors： Koslow M,O'Keefe KJ,Hosseini ZF,Nelson DA,Larsen M

更新日期：2019-12-01 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：: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

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

更新日期：2019-10-01 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：:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib ...

journal_title：Stem cell research

authors： Li Y,Zhang H,Yan B,Ma Y,Yang X,Guan J,Lv Y,Gao M,Ma J,Gai Z,Liu Y

更新日期：2019-10-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with un...

journal_title：Stem cell research

authors： Alari V,Russo S,Rovina D,Garzo M,Crippa M,Calzari L,Scalera C,Concolino D,Castiglioni E,Giardino D,Prosperi E,Finelli P,Gervasini C,Gowran A,Larizza L

更新日期：2019-10-01 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 induced pluripotent stem cell-lines (iPSCs) of Indian origin NCCSi005A and NCCSi006A were established by reprogramming of CD4+T cells, isolated from the peripheral blood mononuclear cells (PBMCs) of two healthy female donors. Reprogramming was achieved using integration free, Sendai viral vector system expressin...

journal_title：Stem cell research

authors： Khan M,Zende S,Vaidyanath A,Avatade R,Shiras A

更新日期：2019-08-01 00:00:00

abstract：:FOS is component of the AP-1 complex and has been reported to be involved in many cellular functions, including cell proliferation, differentiation, survival, angiogenesis, hematopoiesis and cancer progress. To further understand the exact role of FOS in these processes, here we created two FOS knockout human embryoni...

journal_title：Stem cell research

authors： Li C,Wang Q,Peng Z,Lin Y,Liu H,Yang X,Li S,Liu X,Chen J

更新日期：2019-08-01 00:00:00

abstract：:We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was ...

journal_title：Stem cell research

authors： Mura M,Pisano F,Stefanello M,Ginevrino M,Boni M,Calabrò F,Crotti L,Valente EM,Schwartz PJ,Brink PA,Gnecchi M

更新日期：2019-08-01 00:00:00

abstract：:We established three iPSC lines from postmortem-cultured fibroblasts derived following the sudden unexpected death of an 8-year-old girl with Lennox-Gastaut syndrome, who turned out to have the R551H-mutant STXBP1 gene. These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated ...

journal_title：Stem cell research

authors： Yamamoto T,Otsu M,Okumura T,Horie Y,Ueno Y,Taniguchi H,Ohtaka M,Nakanishi M,Abe Y,Murase T,Umehara T,Ikematsu K

更新日期：2019-08-01 00:00:00

abstract：:Best's disease (BD) is an inherited retinal degenerative disease caused by mutations in BEST1 gene. A human induced pluripotent stem cell (iPSC) line has been generated with integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a BD patient carrying c.888C > A mutation in BEST1 gene. ...

journal_title：Stem cell research

authors： Bai X,Yang XJ,Chen L

更新日期：2019-07-01 00:00:00

abstract：:Stem cells can differentiate into various body tissues and organs and thus are considered as promising tools for cell therapy and tissue engineering. Early passage stem cells have high differentiation ability compared to late passage stem cells. Thus, it is important to use early passage stem cells in cell therapy. He...

journal_title：Stem cell research

authors： Hong SH,Lee MH,Koo MA,Seon GM,Park YJ,Kim D,Park JC

更新日期：2019-07-01 00:00:00

abstract：:Recent clinical trials show the efficacy of Adipose-derived Stromal Cells (ASCs) in contrasting the osteoarthritis scenario. Since it is quite accepted that ASCs act predominantly through a paracrine mechanism, their secretome may represent a valid therapeutic substitute. The aim of this study was to investigate the e...

journal_title：Stem cell research

authors： Niada S,Giannasi C,Gomarasca M,Stanco D,Casati S,Brini AT

更新日期：2019-07-01 00:00:00

abstract：:Here we utilized the chromatin in vivo assay (CiA) mouse platform to directly examine the epigenetic barriers impeding the activation of the CiA:Oct4 allele in mouse embryonic fibroblasts (MEF)s when stimulated with a transcription factor. The CiA:Oct4 allele contains an engineered EGFP reporter replacing one copy of ...

journal_title：Stem cell research

authors： Headley KM,Kedziora KM,Alejo A,Lai EZ,Purvis JE,Hathaway NA

更新日期：2019-07-01 00:00:00

abstract：:Niemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a 21-fetal-week-old female patient with NPA th...

journal_title：Stem cell research

authors： Baskfield A,Li R,Beers J,Zou J,Liu C,Zheng W

更新日期：2019-07-01 00:00:00

abstract：:Transplantation of primary hepatocytes has been used in treatments for various liver pathologies and end-stage liver disease. However, shortage of donor tissue and the inability of hepatocyte proliferation in vitro have lead to alternative methods such as stem cell-derived hepatocyte-like cells (HLCs). Mesenchymal str...

journal_title：Stem cell research

authors： Coronado RE,Somaraki-Cormier M,Ong JL,Halff GA

更新日期：2019-07-01 00:00:00

abstract：:Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate which complexes with calcium to form insoluble calcium-oxalate salts in...

journal_title：Stem cell research

authors： Estève J,Blouin JM,Lalanne M,Azzi-Martin L,Dubus P,Bidet A,Harambat J,Llanas B,Moranvillier I,Bedel A,Moreau-Gaudry F,Richard E

更新日期：2019-07-01 00:00:00

abstract：:A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cell...

journal_title：Stem cell research

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

更新日期：2019-05-01 00:00:00

abstract：:To develop a disease model for the human 'brittle bone' disease, osteogenesis imperfecta, we have used gene editing to produce a facsimile of the patient heterozygous COL1A1 mutation in an established control iPSC line. The gene-edited line had a normal karyotype, expressed pluripotency markers and differentiated into...

journal_title：Stem cell research

authors： Hosseini Far H,Patria YN,Motazedian A,Elefanty AG,Stanley EG,Lamandé SR,Bateman JF

更新日期：2019-05-01 00:00:00

abstract：:Conditioned medium (CM) derived from engineered cells often facilitates the cost-effective culture of a variety of stem cells. Growing emphasis on the importance of rigor and reproducibility in lab-based science requires development of best practices approaches, including quality control procedures for the assessment ...

journal_title：Stem cell research

authors： VanDussen KL,Sonnek NM,Stappenbeck TS

更新日期：2019-05-01 00:00:00

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

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

更新日期：2019-05-01 00:00:00

abstract：:Human iPSC line, iPSC-ADM01(SYSUi001-A), was generated from a 70-year-old male patient with sporadic Alzheimer's disease, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and in vivo, and has a normal karyotype. ...

journal_title：Stem cell research

authors： Wei R,Han H,Ye M,He L,Lei Q,Zhou T,Cai X,Li Z

更新日期：2019-03-01 00:00:00

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

authors： Bai X,Yang X,Cheng Y,Chen L

更新日期：2019-01-01 00:00:00

abstract：:As one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance. The p53(R249S) mutation is the most prevalent and specific mutation associated wit...

journal_title：Stem cell research

authors： Huo Z,Tu J,Xu A,Li Y,Wang D,Liu M,Zhou R,Zhu D,Lin Y,Gingold JA,Yen CJ,Xiao H,Zhao R

更新日期：2019-01-01 00:00:00

abstract：:We describe the generation and characterization of 5 human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of healthy adult individuals. The PBMCs were reprogrammed using non-integrating Sendai viruses containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and...

journal_title：Stem cell research

authors： Vlahos K,Sourris K,Mayberry R,McDonald P,Bruveris FF,Schiesser JV,Bozaoglu K,Lockhart PJ,Stanley EG,Elefanty AG

更新日期：2019-01-01 00:00:00

abstract：:Hypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries th...

journal_title：Stem cell research

authors： Holliday M,Ross SB,Lim S,Semsarian C

更新日期：2018-12-01 00:00:00

abstract：:The human iPSC cell line, CARS-FiPS4F1 (ESi064-A), derived from dermal fibroblast from the apparently healthy carrier of the mutation of the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemist...

journal_title：Stem cell research

authors： Machuca C,Vilches A,Clemente E,Pascual-Pascual SI,Bolinches-Amorós A,Artero Castro A,Espinos C,Leon M,Jendelova P,Erceg S

更新日期：2018-12-01 00:00:00

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

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

更新日期：2018-12-01 00:00:00

abstract：:GABAergic interneuron dysfunction has been implicated in temporal lobe epilepsy (TLE), autism, and schizophrenia. Inhibitory interneuron progenitors transplanted into the hippocampus of rodents with TLE provide varying degrees of seizure suppression. We investigated whether human embryonic stem cell (hESC)-derived int...

journal_title：Stem cell research

authors： Anderson NC,Van Zandt MA,Shrestha S,Lawrence DB,Gupta J,Chen CY,Harrsch FA,Boyi T,Dundes CE,Aaron G,Naegele JR,Grabel L

更新日期：2018-12-01 00:00:00

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

authors： Wang Y,Zhang J,Lei Y,Zhao J

更新日期：2018-12-01 00:00:00

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

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

更新日期：2018-12-01 00:00:00

abstract：:CHCHD2 mutation has been reported as a potential cause of a rare form of familial Parkinson's disease. Recently, a novel CHCHD2 mutation was identified in a family with Parkinson's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells(iPSCs), empl...

journal_title：Stem cell research

authors： Wang Y,Wang Z,Sun H,Mao C,Yang J,Liu Y,Liu H,Zhang S,Zhang J,Xu Y,Shi C

更新日期：2018-10-01 00:00:00

abstract：:The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEI...

journal_title：Stem cell research

authors： Zhang X,Zhang D,Chen SC,Lamey T,Thompson JA,McLaren T,De Roach JN,Chen FK,McLenachan S

更新日期：2018-08-01 00:00:00

abstract：:Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes mellitus presenting at childhood or adolescence, which eventually leads to pancreatic β-cells dysfunction. The underlying genetic basis of MODY disorders is haploinsufficiency, where loss-of-function mutations in a single allele cause the dia...

journal_title：Stem cell research

authors： Braverman-Gross C,Nudel N,Ronen D,Beer NL,McCarthy MI,Benvenisty N

更新日期：2018-08-01 00:00:00

abstract：:Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease m...

journal_title：Stem cell research

authors： Kumar D,Hussain A,Srivastava AK,Mukerji M,Mukherjee O,Faruq M

更新日期：2018-08-01 00:00:00