Generation of human induced pluripotent stem cell lines from relatives of an unexplained sudden cardiac death victim carrying a Brugada Syndrome-associated, SCN5A c.287 T > C, variant [0.03%]
携带Brugada综合征相关SCN5A c.287T>C变异的不明原因突发性心脏死亡患者的亲属中诱导多能干细胞系的生成
Elisabet Selga,Rebecca Martínez-Moreno,Albert Rigat Pujolàs et al.
Elisabet Selga et al.
Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of four family members. Two of them carried the single nuc...
Generation of human induced pluripotent stem cell lines from relatives of an unexplained sudden cardiac death victim carrying a Brugada Syndrome-associated, SCN5A c.287 T > C, variant [0.03%]
携带Brugada综合征相关SCN5A c.287 T > C变异的突发不明原因心脏骤停患者的亲属中诱导多能干细胞系的建立
Elisabet Selga,Rebecca Martínez-Moreno,Albert Rigat Pujolàs et al.
Elisabet Selga et al.
Patient-derived induced pluripotent stem cells (hiPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of four family members. Two of them carried the single nuc...
CRISPR/Cas9-mediated generation of a homozygous MT4 knockout mouse embryonic stem cell line [0.03%]
用于生成纯合MT4敲除的小鼠胚胎干细胞系的CRISPR/Cas9技术
Huanxin Zhou,YinE Li,Meiyan Jia et al.
Huanxin Zhou et al.
Metallothionein 4 (MT4) is a low-molecular-weight, cysteine-rich metal-binding protein belonging to the metallothionein family. It exhibits unique skin developmental and differentiation inhibitory activity when functionally impaired and reg...
Generation of an NKX2-1-EGFP reporter iPSC line with inducible Cas9 for lung progenitor cell tracing [0.03%]
一种用于肺祖细胞追踪的可诱导Cas9的NKX2-1-EGFP报告iPSC系的建立
Shenglan Wang,Xing Feng,Bizhi Shang et al.
Shenglan Wang et al.
NK2 homeobox 1 (NKX2-1), a master regulator robustly expressed in lung, thyroid, and forebrain, is indispensable for specifying lung epithelial fate and serves as a definitive marker of lung progenitors. Here, we generated a human induced P...
Generation of an induced pluripotent stem cell line (HMSCATi007-A) from an epileptic patient with DEPDC5 gene mutation [0.03%]
来源于DEPDC5基因突变的癫痫患者诱导多能干细胞系（HMSCATi007-A）的建立
Xinwei Li,Zuo Chunyan,Mengcao Lu et al.
Xinwei Li et al.
Familial Focal Epilepsy with Variable Foci 1 (FFEVF1) is an autosomal dominant epilepsy disorder characterized by focal seizures. Induced pluripotent stem cells (iPSCs) were derived from a 21-year-old epileptic patient carrying a heterozygo...
Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3) [0.03%]
携带RHO c.68C > A变异(p.P23H)的视网膜色素变性患者衍生hiPSC系(IDVi007-A，IDVi007-B)的生成及其同基因校正hiPSC系(IDVi007-A-1，IDVi007-A-2，IDVi007-A-3)的建立
Marilou Clémençon,Jérémy Brogard,Marie Rozen et al.
Marilou Clémençon et al.
The p.Pro23His (c.68C > A; P23H) mutation leads to autosomal dominant retinitis pigmentosa (adRP). Here, we reprogrammed adRP patient fibroblasts in human induced pluripotent stem cells (hiPSCs) using Sendai virus. We then generated two mut...
Establishment of four induced pluripotent stem cell lines (IGIBi028-A, IGIBi029-A, IGIBi030-A, and IGIBi031-A) from peripheral blood derived cells of Spinocerebellar ataxia Type 12 patients [0.03%]
由脊髓小脑萎缩症12型外周血细胞建立的四个诱导多能干细胞系(IGIBi028-A，IGIBi029-A，IGIBi030-A和IGIBi031-A)
Istaq Ahmad,Shahrumi Reza,Nidhi Singh et al.
Istaq Ahmad et al.
Spinocerebellar ataxia type 12 (SCA12) is a progressive late-onset neurodegenerative disorder caused by expansion of ≥ 43 trinucleotide CAG repeats in the upstream non-coding region of the PPP2R2B gene at locus 5q32 (SCA12; OMIM#604326). C...
Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene [0.03%]
来源于GBA1基因复合杂合变异体p.Arg87Trp和p.Arg296Gln的Gaucher病患者的人类诱导多能干细胞系（PNUSCRi003-A）的建立
Nayeon Lee,Tae-Yun Kim,Hyunki Jang et al.
Nayeon Lee et al.
Gaucher disease (GD) is a rare inherited metabolic disease wherein deficiency of glucocerebrosidase (GCase) in the GBA1 gene, resulting in the accumulation of harmful quantities of lipids. Here, we obtained peripheral blood mononuclear cell...
Engineering STRAIGHT-IN single and dual lines in the male iPS11 parental line for programmable DNA integration [0.03%]
在IPS11亲本细胞系中工程化正交的单行和双行STRAIGHT-IN位点以实现程序化的DNA整合
Albert Blanch-Asensio,Derin R Gumustop,Nathan B Wang et al.
Albert Blanch-Asensio et al.
STRAIGHT-IN is a genome engineering platform that enables precise integration of DNA payloads into mammalian genomes, including hiPSCs. In this study, we generated three hiPSC acceptor lines containing either one (single) or two (dual) land...
Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A [0.03%]
由TUBB4A基因c.1172G>A(p.R391H)从头突变引起的晚婴型TUBB4A相关脑白质营养不良个体诱导的多能干细胞系的建立
Zhongqi Hou,Alyssa Gagne,Jingli Cai et al.
Zhongqi Hou et al.
A de novo variant, c.1172G > A (p. Arg391His) inTUBB4A causes late infantile TUBB4A-associated leukodystrophy with MRI features of isolated hypomyelination. To model and understand the disease pathology, we generated three induced pluripote...