ID   HPS1012
AC   CVCL_VN08
SY   BRCi005-A
DR   hPSCreg; BRCi005-A
DR   RCB; HPS1012
DR   SKIP; SKIP005775
DR   Wikidata; Q94219381
RX   PubMed=32416576;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12703; BEST1; Simple; p.Arg218His (c.653G>A); ClinVar=VCV000099736; Zygosity=Heterozygous (PubMed=32416576).
CC   Sequence variation: Mutation; HGNC; 12703; BEST1; Simple; p.Ala357Val (c.1070C>T); ClinVar=VCV000305125; Zygosity=Heterozygous (PubMed=32416576).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C118788; Vitelliform macular dystrophy
DI   ORDO; Orphanet_1243; Best vitelliform macular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 20-05-21; Version: 5
//
RX   PubMed=32416576; DOI=10.1016/j.scr.2020.101782;
RA   Kamata K., Otsuka Y., Imamura K., Oishi A., Kondo T., Suga M.,
RA   Shibukawa R., Okanishi Y., Sagara Y., Tsukita K., Yasukawa T.,
RA   Usui H., Muguruma K., Tsujikawa A., Inoue H.;
RT   "Generation of a human induced pluripotent stem cell line, BRCi005-A,
RT   derived from a Best disease patient with BEST1 mutations.";
RL   Stem Cell Res. 45:101782-101782(2020).
//