Cellosaurus cell line QDMHi001-A (CVCL

Cross-references
Cell line name	QDMHi001-A
Synonyms	PBMC20190809-01 SeVC5
Accession	CVCL_A8MZ
Resource Identification Initiative	To cite this cell line use: QDMHi001-A (RRID:CVCL_A8MZ)
Comments	From: Qingdao Municipal Hospital; Qingdao; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys2258Arg (c.6772T>C); ClinVar=VCV000379489; Zygosity=Heterozygous (PubMed=34087733).
Disease	Marfan syndrome (NCIt: C34807) Marfan syndrome (ORDO: Orphanet_558)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	33Y
Category	Induced pluripotent stem cell
Publications	PubMed=34087733; DOI=10.1016/j.scr.2021.102390 Sui-Han Wu, Zhi-Dong Zhang, Lei Wang, Jin Yu; Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1. Stem Cell Res. 54:102390-102390(2021)
Cell line databases/resources	hPSCreg; QDMHi001-A
Biological sample resources	BioSamples; SAMEA8268544
Encyclopedic resources	Wikidata; Q108821196
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5