Cellosaurus cell line CMUi001-A (CVCL

Cross-references
Cell line name	CMUi001-A
Synonyms	FBN1-E2130K-iPSC
Accession	CVCL_WG49
Resource Identification Initiative	To cite this cell line use: CMUi001-A (RRID:CVCL_WG49)
Comments	From: Anzhen Hospital, Capital Medical University; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Glu2130Lys (c.6388G>A); ClinVar=VCV000200191; Zygosity=Heterozygous (PubMed=30870686).
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	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=30870686; DOI=10.1016/j.scr.2019.101414 Xiao-Wei Li, Tao Dong, Ya-Nan Li, Fu-Jian Wu, Feng Lan; Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1. Stem Cell Res. 36:101414-101414(2019)
Cell line databases/resources	hPSCreg; CMUi001-A
Encyclopedic resources	Wikidata; Q93455820
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9