Cellosaurus cell line HPS1012 (CVCL

Cellosaurus HPS1012 (CVCL_VN08)

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 Kazuma Kamata, Yuki Otsuka, Keiko Imamura, Akio Oishi, Takayuki Kondo, Mika Suga, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayko Tsukita, Tsutomu Yasukawa ...Show all 15 authors... , Hideaki Usui, Keiko Muguruma, Akitaka Tsujikawa, Haruhisa Inoue; Show fewer authors 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