Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys) [0.03%]
Maheshwari Baduvandra Chettiyappa,Bevinahalli Nanjegowda Nandeesh,Madhura Milind Nimonkar et al.
Maheshwari Baduvandra Chettiyappa et al.
IBA57 (Iron-Sulphur Cluster Assembly Factor IBA57) is a gene that encodes a protein iron-sulfur clusters which is crucial for mitochondrial maturation, mutation in these genes cause mitochondrial dysfunction. Clinical indication varies from...
Generation of two isogenic induced pluripotent stem cell lines derived from a Hispanic individual with Alzheimer's Disease and mosaic for loss of the Y chromosome [0.03%]
来源于带有染色体Y单体型缺失的阿尔茨海默病个体的两个同基因诱导多能干细胞系的建立
Holly N Cukier,Brooke A DeRosa,Lauren E Coombs et al.
Holly N Cukier et al.
Mosaic loss of the Y chromosome (LOY) is a somatic phenomenon that occurs in males as they age (Jacobs, 1963; Forsberg, 2017; Danielsson, 2020) and is associated with an elevated risk of developing numerous diseases, including Alzheimer's D...
Generation of an induced pluripotent stem cell line from a patient with Varicose veins [0.03%]
采自静脉曲张患者的诱导多能干细胞系的建立
Chikage Noishiki,Amit Manhas,Shaunak S Adkar et al.
Chikage Noishiki et al.
Chronic venous disease is among the most common vascular diseases globally. Varicose veins (VV), characterized by permanent dilation, elongation, and tortuosity of superficial veins, is a manifestation of chronic venous disease. Here, we ge...
Generation of induced pluripotent stem cells (NIMHi018-A) from a Parkinson's disease patient harbouring a heterozygous missense mutation for PINK1 variant c.1208G > A, p.Trp403Ter [0.03%]
由 PARKIN 基因杂合错义突变(c.1208G>A，p.Trp403Ter)引起帕金森病患者的诱导多能干细胞系(NIMHi018-A)的建立
Roon Banerjee,Rituparna Ghanty,Vikram Holla et al.
Roon Banerjee et al.
The PTEN-induced kinase 1 (PINK1) gene mutation is the second most prevalent young-onset Parkinson disease (YOPD) characterized by early onset of motor symptoms that are often indistinguishable from other causes of PD. Induced pluripotent s...
Generation of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents [0.03%]
利用先天性长QT综合征胎儿及双亲纤维来源成功建立人诱导多能干细胞系
Manesha Putra,Bettina F Cuneo,Congwu Chi et al.
Manesha Putra et al.
Long QT syndrome (LQTS) is a channelopathy that predisposes affected individuals to ventricular arrhythmias and cardiac arrest. Here, a human induced pluripotent stem cell (hiPSC) line was generated from amniotic fluid cells (AFCs) of a 32-...
Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R) [0.03%]
带有引起肾小球血栓性微血管病突变(p.Q27R)的MMACHC蛋白的诱导多能干细胞系的建立
Zhiqi Zhou,Xiao&#x;e Zhang,Cuilan Hou et al.
Zhiqi Zhou et al.
Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA). The pathophysiology underlying these mutations an...
Generation and validation of a iPSC line from a healthy female donor using integration-free Sendai virus reprogramming [0.03%]
使用无整合沙甸病毒重编程方法建立并验证人健康女性诱导多能干细胞系
Yuanyuan Chen,Xiaoqin Shi,Wei Long et al.
Yuanyuan Chen et al.
We generated a characterized integration-free iPSC line derived via Sendai virus reprogramming from healthy female donor PBMCs. This method preserves genomic integrity and pluripotent potential. Validated markers include nuclear/membrane-bo...
Three modified human IPSC lines containing mutations in the distal DEHMBA associated locus of the SRCAP gene [0.03%]
三个在SRCAP基因远端DEHMBA相关位点含突变的人类多能干细胞系修改版本
Johannes Rhode,Lisa Hagenau,Stephanie Edwards et al.
Johannes Rhode et al.
We modified an existing human iPSC line (MHHi001-A), using CRISPR/Cas9, to introduce heterozygous frameshift mutations in a locus of the SRCAP gene that is associated with the DEHMBA disease (OMIM 619595). The modified iPSCs express several...
Corrigendum to "Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best's disease patient with c.763C > T mutation in BEST1 gene" [Stem Cell Res. 88 (2025) 103806] [0.03%]
“由BEST1基因c.763C > T突变的Best病患者的诱导多能干细胞系SJTUGHi004-A的建立”一文的勘误(卷88, 103806(2025))
Yuxin Jiang,Hong Wang,Lihong Jiang et al.
Yuxin Jiang et al.
Published Erratum
Stem cell research. 2025 Sep 30:89:103845. DOI:10.1016/j.scr.2025.103845 2025
Corrigendum to "Generation of a biallelic NRAP-knockout mutant from a human iPSC line". [Stem. Cell Res. 88 (2025) 103829] [0.03%]
“从人类iPSC系生成biallelic NRAP敲除突变体”的勘误表|[干细胞研究].88 (2025).103829]
Janice Raabe,Vanessa Lewandowski,Sigrid Fuchs et al.
Janice Raabe et al.
Published Erratum
Stem cell research. 2025 Sep 30:89:103846. DOI:10.1016/j.scr.2025.103846 2025