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：:Hematopoietic stem and progenitor cell (HSPC) transplantation is the paradigm for stem cell therapies. The protocol described here enables quantitative assessment of the body-wide HSPC reconstitution of different mature hematopoietic cells in mice based on their presence in circulating blood. The method determines don...

journal_title：Stem cell research

authors： Rajendiran S,Boyer SW,Forsberg EC

更新日期：2020-12-29 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：BACKGROUND:Angiogenesis is an essential step in tissue engineering. MSC exosomes play an important role in angiogenesis. Functional biomolecules in exosomes vested by the culture microenvironment can be transferred to recipient cells and affects their effect. 3D culture can improve the proliferation and activity of MSC...

journal_title：Stem cell research

authors： Gao W,Liang T,He R,Ren J,Yao H,Wang K,Zhu L,Xu Y

更新日期：2020-12-10 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：:Human FOXH1 (Forkhead Box H1) gene encodes a human homolog of Xenopus forkhead activing signal transducer-1 and has been shown to play an important role in mesendoderm formation in X. tropicalis and mice. However, little is known about the function of FOXH1 in human development. Here we generated a FOXH1 homozygous kn...

journal_title：Stem cell research

authors： Zhang T,Huang W,Xue X

更新日期：2020-12-10 00:00:00

abstract：:Myeloid ecotropic viral integration site 1 (MEIS1) plays an essential role in the development of several embryonic organs, such as the central nervous system and eyes. To further investigate the role of MEIS1 in embryonic development, herein, we generated a MEIS1 homozygous knockout human embryonic stem cell (hESC) li...

journal_title：Stem cell research

authors： Zhang C,Yu Y,Li F,Lan X,Wang L

更新日期：2020-12-01 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：: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：:Constant neuroregeneration in adult olfactory epithelium maintains olfactory function by basal stem cell proliferation and differentiation to replace lost olfactory sensory neurons (OSNs). Understanding the mechanisms regulating this process could reveal potential therapeutic targets for stimulating adult olfactory ne...

journal_title：Stem cell research

authors： Jia C,Oliver J,Gilmer D,Lovins C,Rodriguez-Gil DJ,Hagg T

更新日期：2020-12-01 00:00:00

abstract：:Autism is a heterogeneous neurodevelopmental disorder defined by deficits in socialization, communication, and patterns of behavior. Using stem cells to model brain disordersmay yield new understanding about the underlying neuropathological processes and could prove essential for drug development. We present here a ne...

journal_title：Stem cell research

authors： Kamand M,Ilieva M,Forsberg SL,Thomassen M,Svenningsen ÅF,Meyer M,Michel TM

更新日期：2020-12-01 00:00:00

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

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

abstract：:GADD45A is a DNA damage and stressful growth arrest inducible protein, also it is shown to a be tumor suppressor gene and a chromatin relaxer associated with opening chromatin during the somatic reprogramming. However, its role in human embryonic stem cells and human embryonic stem cell modeled development has been me...

journal_title：Stem cell research

authors： Li J,Li Y,Zhan XY,Ran X,Tse HF,Dang S,Nie Y,Huang K

更新日期：2020-12-01 00:00:00

abstract：:The European Bank for induced Pluripotent Stem Cells (EBiSC), a non-profit repository for storage, banking, Quality Control (QC) and subsequent distribution of research-grade human induced Pluripotent Stem Cell (iPSC) lines, has centralised iPSC lines generated internationally across >35 disease areas and made them av...

journal_title：Stem cell research

authors： Steeg R,Neubauer JC,Müller SC,Ebneth A,Zimmermann H

更新日期：2020-12-01 00:00:00

abstract：:The Global Alliance for iPSC Therapies (GAiT) is a new initiative to support the implementation and clinical application of therapies derived from pluripotent stem cells to the benefit of patients globally. GAiT's mission is to serve as a central, international resource for those organisations developing therapies fro...

journal_title：Stem cell research

authors： Sullivan S,Ginty P,McMahon S,May M,Solomon SL,Kurtz A,Stacey GN,Bennaceur Griscelli A,Li RA,Barry J,Song J,Turner ML

更新日期：2020-12-01 00:00:00

abstract：:Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC...

journal_title：Stem cell research

authors： Tan C,Dai L,Yang W,Li F,Wang L,Xiao Y,Wang X,Zhang Y,Wang Y,Zeng C,Xiang Z,Zhang X,Zhang W,Ran Q,Chen M,Li Z,Chen L

更新日期：2020-10-01 00:00:00

abstract：:Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. The induced pluripotent stem cell (iPSC) li...

journal_title：Stem cell research

authors： Gao X,Qiu SW,Feng ML,Huang SS,Kang DY,Han MY,Dai P,Yuan YY

更新日期：2020-10-01 00:00:00

abstract：:OCT4 and NANOG are core transcription factor genes in self-renewal, differentiation, and reprogramming. Here, we generated an OCT4-EGFP, NANOG-tdTomato dual reporter hiPSC line, KKUi001-A, on the basis of human induced pluripotent stem cells using CRISPR/Cas9 technology. EGFP and tdTomato reporter were inserted into b...

journal_title：Stem cell research

authors： Lee M,Choi NY,Park S,Bang JS,Lee Y,Jeong D,Ham S,Lim S,Kim KH,Ko K

更新日期：2020-10-01 00:00:00

abstract：:Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient derm...

journal_title：Stem cell research

authors： Jennings L,Zhang D,Chen SC,Moon SY,Lamey T,Thompson JA,McLaren T,De Roach JN,Chen FK,McLenachan S

更新日期：2020-10-01 00:00:00

abstract：:Liver cirrhosis accompanied with hepatic encephalopathy commonly causes cognitive impairment in patients. To model this disease, two independent patient specific induced pluripotent stem cell-line (iPSC) clones, NCCSi011-A and NCCSi011-B were generated by reprogramming the CD4+ T cells of an Indian male patient suffer...

journal_title：Stem cell research

authors： Vaidyanath A,Khan M,Vaishnav B,Kakrani AL,Patil S,Shiras A

更新日期：2020-10-01 00:00:00

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

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

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：: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：:In this study, we established induced pluripotent stem (iPS) cell lines from postmortem dura-derived fibroblasts of four control individuals with low polygenic risk score for psychiatric disorders including schizophrenia and bipolar disorder. The fibroblasts were reprogrammed into iPS cells using episomal vectors carr...

journal_title：Stem cell research

authors： Sawada T,Benjamin KJM,Brandtjen AC,Tietze E,Allen SJ,Paquola ACM,Kleinman JE,Hyde TM,Erwin JA

更新日期：2020-07-01 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：:Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained by non-integrating episomal vectors containing OCT4, SOX2...

journal_title：Stem cell research

authors： Zhang H,Ma Y,Lv Y,Wan Y,Zhao Q,Gai Z,Liu Y

更新日期：2020-05-01 00:00:00

abstract：:We report the engendering an isogenic iPSC line from the IBMS-iPSC-014-05 with homozygous correction of the R803X, Chr4: 88989098C > T in PKD2, using CRISPR/Cas9 technology. The results from the isogenic control, IBMS-iPSC-014-05C, showed that mutation had been corrected, while maintaining normal morphology, pluripote...

journal_title：Stem cell research

authors： Liu CL,Huang CY,Chen HC,Lu HE,Hsieh PCH,Lee JJ

更新日期：2020-05-01 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：:Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 60-year-old female diagnosed with sporadic amyotrophic lateral sclerosis (sALS). The iPSCs shared the same karyotype with the parent PBMCs, expressed pluripotency stem cell markers, and demonstrated tr...

journal_title：Stem cell research

authors： Feng B,Ma J,Amponsah AE,Guo R,Kong D,He J,Jiang Y,Zhang W,Zhang Z,Song Y,Shen S,O'Brien T,Cui H

更新日期：2020-05-01 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

abstract：:We have established the patient-specific induced pluripotent stem (iPS) cell line CSUASOi004-A by using peripheral blood mononuclear cells (PBMCs) of a retinitis pigmentosa (RP) patient with a PRPF6 gene mutation (c.G2699A:p.R900H). CSUASOi004-A was established by a non-integrative method with four episomal plasmids c...

journal_title：Stem cell research

authors： Zhou Y,Jing Y,Mao S,Liu J,Cui Z,Wang Y,Chen J,Chan HF,Tang S,Chen J

更新日期：2020-05-01 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：:Heredity is the major factor contributing to the susceptibility to ankylosing spondylitis(AS). Janus kinase 2 (JAK2) has been associated with AS. Urine-derived cells from an AS patient with JAK2 mutation were used to generate induced pluripotent stem cells (iPSCs) with five episomal iPSC reprogramming vectors (pCXLE-h...

journal_title：Stem cell research

authors： Hu J,Ren W,Qiu W,Lv J,Zhang C,Xu C,DU W,Wu M,Wang J,Quan R

更新日期：2020-05-01 00:00:00

abstract：:The discovery of the Ten-Eleven Translocation (TET) protein family was initiated by the identification of the MLL partner TET1, and of mutations in the TET2 gene in hematological malignancies including myeloproliferative neoplasms (MPN). TET1, 2 and 3 proteins hydroxylate 5-methylcytosine (5-mC) into 5-hydroxymethylcy...

journal_title：Stem cell research

authors： Secardin L,Limia CEG,di Stefano A,Bonamino MH,Saliba J,Kataoka K,Rehen SK,Raslova H,Marty C,Ogawa S,Vainchenker W,Monte-Mor BDCR,Plo I

更新日期：2020-04-01 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：: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：: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：:Peripheral blood mononuclear cells (PBMCs) were collected from a 6-year-old female child who was clinically diagnosed as primary nephrotic syndrome (NS) with hormone resistance. An iPSC line was successfully established by the Sendai-virus (SeV) delivery system. The iPS-19 (GSPHi001-A) expressed pluripotent markers, e...

journal_title：Stem cell research

authors： Gao X,Gao X,Zhao H,Cui W,Tan M,Deng H

更新日期：2019-12-01 00:00:00

abstract：:Human induced pluripotent stem cell (hiPSC) line TCIERi001-A was generated from normal human epidermal keratinocytes (NHEK) primary cell line with the nonintegrating system using Sendai reprogramming kit. Sendai particles were used to deliver the defined transcription factors that included three vector preparations, s...

journal_title：Stem cell research

authors： Shrestha R,Wen YT,Tsai RK

更新日期：2019-12-01 00:00:00

abstract：:Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound mutations R608X E888X in GAA gene. PBMCs were reprogrammed us...

journal_title：Stem cell research

authors： Zhang Y,Li A,Wang J,Wang G,Wang D

更新日期：2019-12-01 00:00:00