Cellosaurus cell line ICSSUi001-A (CVCL

Cross-references
Cell line name	ICSSUi001-A
Synonyms	FBN1-C2633G-iPSC
Accession	CVCL_B5IL
Resource Identification Initiative	To cite this cell line use: ICSSUi001-A (RRID:CVCL_B5IL)
Comments	From: Institute for Cardiovascular Science of Soochow University; Suzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys2633Gly (c.7897T>G); ClinVar=VCV000984411; Zygosity=Heterozygous (PubMed=35231796).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=35231796; DOI=10.1016/j.scr.2022.102720 You Yu, Han Shen, Jing-Ze Zhu, Xiang-Yu Cao, Qian Li, Lian-Bo Shao, Zhen-Ya Shen; Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene. Stem Cell Res. 60:102720-102720(2022)
Cell line databases/resources	hPSCreg; ICSSUi001-A
Biological sample resources	BioSamples; SAMEA8286668
Encyclopedic resources	Wikidata; Q110432917
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6