Cellosaurus cell line FDHSi001-A (CVCL

Cross-references
Cell line name	FDHSi001-A
Synonyms	FDH-iPS-OPDM-GIPC1; GD09003
Accession	CVCL_C1T3
Resource Identification Initiative	To cite this cell line use: FDHSi001-A (RRID:CVCL_C1T3)
Comments	From: Huashan Hospital of Fudan University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1226; GIPC1; Repeat_expansion; c.-211GGC(163); c.-211GGC[(73_?)]; ClinVar=VCV000972742; Zygosity=Heterozygous (PubMed=36055118).
Disease	Oculopharyngodistal myopathy 2 (NCIt: C190873) Oculopharyngodistal myopathy (ORDO: Orphanet_98897)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	49Y
Category	Induced pluripotent stem cell
Publications	PubMed=36055118; DOI=10.1016/j.scr.2022.102897 Ke-Xin Jiao, Dong-Yue Yue, Xin-Yu Gu, Na-Chuan Cheng, Xue-Chun Chang, Hua-Hua Zhong, Xiao Huan, Manqiqige Su, Yu-Fan Zhou, Su-Shan Luo, Chong-Bo Zhao ...Show all 13 authors... , Jian-Ying Xi, Wen-Hua Zhu; Show fewer authors Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1. Stem Cell Res. 64:102897-102897(2022)
Cell line databases/resources	hPSCreg; FDHSi001-A
Biological sample resources	BioSamples; SAMEA14509620
Encyclopedic resources	Wikidata; Q114311388
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5