Cellosaurus cell line HPS1012 (CVCL

Cross-references
Cell line name	HPS1012
Synonyms	BRCi005-A
Accession	CVCL_VN08
Resource Identification Initiative	To cite this cell line use: HPS1012 (RRID:CVCL_VN08)
Comments	Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12703; BEST1; Simple; p.Arg218His (c.653G>A); ClinVar=VCV000099736; Zygosity=Heterozygous (PubMed=32416576). Mutation; HGNC; HGNC:12703; BEST1; Simple; p.Ala357Val (c.1070C>T); ClinVar=VCV000305125; Zygosity=Heterozygous (PubMed=32416576).
Disease	Vitelliform macular dystrophy (NCIt: C118788) Best vitelliform macular dystrophy (ORDO: Orphanet_1243)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	20-29Y
Category	Induced pluripotent stem cell
Publications	PubMed=32416576; DOI=10.1016/j.scr.2020.101782 Kamata K., Otsuka Y., Imamura K., Oishi A., Kondo T., Suga M., Shibukawa R., Okanishi Y., Sagara Y., Tsukita K., Yasukawa T., Usui H., Muguruma K., Tsujikawa A., Inoue H. Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations. Stem Cell Res. 45:101782-101782(2020)
Cell line collections (Providers)	RCB; HPS1012
Cell line databases/resources	hPSCreg; BRCi005-A SKIP; SKIP005775
Encyclopedic resources	Wikidata; Q94219381
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	8