Generation of human iPSC line GRX-MCiPS4F-A2 from adult peripheral blood mononuclear cells (PBMCs) with Spanish genetic background.

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：:The cancer stem cell model postulates that tumors are hierarchically organized with a minor population, the cancer stem cells, exhibiting unlimited proliferative potential. These cells give rise to the bulk of tumor cells, which retain a limited ability to divide. Without successful targeting of cancer stem cells, tum...

journal_title：Stem cell research

authors： Fields E,Wren JD,Georgescu C,Daum JR,Gorbsky GJ

更新日期：2018-01-01 00:00:00

abstract：:Laminins are one of the major protein groups in the extracellular matrix (ECM) and specific laminin isoforms are crucial for neuronal functions in the central nervous system in vivo. In the present study, we compared recombinant human laminin isoforms (LN211, LN332, LN411, LN511, and LN521) and laminin isoform fragmen...

journal_title：Stem cell research

authors： Hyysalo A,Ristola M,Mäkinen ME,Häyrynen S,Nykter M,Narkilahti S

更新日期：2017-10-01 00:00:00

abstract：:Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from p...

journal_title：Stem cell research

authors： Zheng Z,Lu W,Pei Z,Chen J,Yang T,Luo F

更新日期：2020-07-05 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：:Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line c...

journal_title：Stem cell research

authors： Xu G,Guo D,Wu F,Abbas N,Lai K,Yuan F,You K,Liu Y,Zhuang Y,Wu Y,Xu Y,Chen Y,Yang F,Pan T,Li YX

更新日期：2018-03-01 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：:The peptide hormone insulin produced by pancreatic β-cells undergoes post-transcriptional processing before secretion. In particular, C-peptide is cleaved from pro-insulin to generate mature insulin. Here, we introduce a C-peptide-mCherry human iPSC line (HMGUi001-A-8). The line was generated by CRISPR/Cas9 mediated h...

journal_title：Stem cell research

authors： Siehler J,Blöchinger AK,Akgün M,Wang X,Shahryari A,Geerlof A,Lickert H,Burtscher I

更新日期：2020-12-16 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

abstract：:Both BMP and Wnt signaling control stem cells in bulge/dermal papilla, intestinal crypt, and bone marrow. To explore their roles in the limbal niche, which govern corneal epithelial homeostasis, we established an in vitro model of sphere growth by reunion between single limbal epithelial progenitor cells (LEPCs) and a...

journal_title：Stem cell research

authors： Han B,Chen SY,Zhu YT,Tseng SC

更新日期：2014-03-01 00:00:00

abstract：:We sought to elucidate how and when the ocular surface ectoderm commits to its differentiation into the corneal epithelium in eye development from human induced pluripotent stem cells (hiPSCs) under the influence of WNT signaling and the actions of BMP4. These signals are key drivers ocular surface ectodermal cell fat...

journal_title：Stem cell research

authors： Kobayashi Y,Hayashi R,Shibata S,Quantock AJ,Nishida K

更新日期：2020-07-01 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：:Mesenchymal stromal cells (MSCs) suppress T cell responses through mechanisms not completely understood. Adenosine is a strong immunosuppressant that acts mainly through its receptor A(2a) (ADORA2A). Extracellular adenosine levels are a net result of its production (mediated by CD39 and CD73), and of its conversion in...

journal_title：Stem cell research

authors： Saldanha-Araujo F,Ferreira FI,Palma PV,Araujo AG,Queiroz RH,Covas DT,Zago MA,Panepucci RA

更新日期：2011-07-01 00:00:00

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

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

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：:Neural progenitor cells have been proposed as a therapy for central nervous system disorders, including neurodegenerative diseases and trauma injuries, however their accessibility is a major limitation. We recently isolated Tuj1+ cells from skeletal muscle culture of Nestin-GFP transgenic mice however whether they for...

journal_title：Stem cell research

authors： Birbrair A,Zhang T,Wang ZM,Messi ML,Enikolopov GN,Mintz A,Delbono O

更新日期：2013-01-01 00:00:00

abstract：:Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 an...

journal_title：Stem cell research

authors： Hansen SK,Borland H,Hasholt LF,Tümer Z,Nielsen JE,Rasmussen MA,Nielsen TT,Stummann TC,Fog K,Hyttel P

更新日期：2016-05-01 00:00:00

abstract：:Understanding the complex mechanisms that govern the fate decisions of human embryonic stem cells (hESCs) is fundamental to their use in cell replacement therapies. The progress of dissecting these mechanisms will be facilitated by the availability of robust high-throughput screening assays on hESCs. In this study, we...

journal_title：Stem cell research

authors： Barbaric I,Gokhale PJ,Jones M,Glen A,Baker D,Andrews PW

更新日期：2010-09-01 00:00:00

abstract：:We studied the susceptibility of human embryonic stem cells and derived contractile embryoid bodies from WAO9, HUES-5 and HUES-16 cell lines to Coxsackievirus B infection. After validating stem cell-like properties and cardiac phenotype, Coxsackievirus B receptors CAR and DAF, as well as type I interferon receptors we...

journal_title：Stem cell research

authors： Scassa ME,Jaquenod de Giusti C,Questa M,Pretre G,Richardson GA,Bluguermann C,Romorini L,Ferrer MF,Sevlever GE,Miriuka SG,Gómez RM

更新日期：2011-01-01 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：: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：: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：:Biliary atresia (BA) is a common cause of pediatric end-stage liver disease. While its etiology is not yet clear, evidence has suggested that BA results from interactions between genetic susceptibility and environmental factors. Disease relevant human cellular models of BA will facilitate identification of both geneti...

journal_title：Stem cell research

authors： Tian L,Eldridge L,Chaudhari P,Zhang L,Anders RA,Schwarz KB,Ye Z,Jang YY

更新日期：2017-10-01 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：: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：: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：:Novel and complementary experimental models are required for investigating the molecular mechanisms underlying the resistance to the available therapies of patients with major depression (Treatment-Resistant Depression, TRD) that occurs in at least one third of patients and need to be deeply investigated. Here, we hav...

journal_title：Stem cell research

authors： Bono F,Mutti V,Piovani G,Minelli A,Mingardi J,Guglielmi A,Fiorentini C,Barbon A,Missale C,Gennarelli M

更新日期：2020-12-01 00:00:00

abstract：:Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Induced pluripotent cells obtained with the application of integration-free episomal vectors display a norm...

journal_title：Stem cell research

authors： Grzela DP,Marciniak B,Pulaski L

更新日期：2020-07-01 00:00:00

abstract：:Crumbs homologue 1 (CRB1) mutations have been found in retinitis pigmentosa (RP) patients lead to severe retinal dystrophies. The human induced pluripotent stem (iPS) cell line CSUASOi003-A derived from peripheral blood mononuclear cells (PBMCs) of a patient carrying two heterozygous mutations (2249G>A p.G750D and c.2...

journal_title：Stem cell research

authors： Zhou Y,Ding C,Xia S,Jing Y,Mao S,Liu J,Chen J,Chan HF,Tang S,Chen J

更新日期：2020-04-01 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