Cellosaurus cell line PUMCHi014-A (CVCL

Cross-references
Cell line name	PUMCHi014-A
Synonyms	SRF-BCD01
Accession	CVCL_A7IZ
Resource Identification Initiative	To cite this cell line use: PUMCHi014-A (RRID:CVCL_A7IZ)
Comments	From: Peking Union Medical College Hospital; 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:23198; CYP4V2; Simple; c.802-8_810del17insGC (IVS6-8 del/insGC); ClinVar=VCV000039271; Zygosity=Heterozygous (PubMed=33857831). Mutation; HGNC; HGNC:23198; CYP4V2; Simple; p.Trp340Ter (c.1020G>A); ClinVar=VCV000039248; Zygosity=Heterozygous (PubMed=33857831).
Disease	Bietti crystalline corneoretinal dystrophy (NCIt: C179299) Bietti crystalline dystrophy (ORDO: Orphanet_41751)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	PubMed=33857831; DOI=10.1016/j.scr.2021.102330 Shi-Jing Wu, Tian Zhu, Zi-Xi Sun, Xing Wei, Xiao-Xu Han, Xuan Zou, Rui-Fang Sui; Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations. Stem Cell Res. 53:102330-102330(2021)
Cell line databases/resources	hPSCreg; PUMCHi014-A
Encyclopedic resources	Wikidata; Q107116681
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6