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Cellosaurus PUMCHi014-A (CVCL_A7IZ)

[Text version]

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 sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 23198; CYP4V2; Simple; c.802-8_810del17insGC (IVS6-8 del/insGC); ClinVar=VCV000039271; Zygosity=Heterozygous (PubMed=33857831).
Mutation; 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
Wu S.-J., Zhu T., Sun Z.-X., Wei X., Han X.-X., Zou X., Sui R.-F.
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)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi014-A
Entry history
Entry creation20-May-2021
Last entry update20-May-2021
Version number1