ID   SCVIi008-A
AC   CVCL_A7KN
SY   SCVI-333; SCVI 333; SCVI333
DR   hPSCreg; SCVIi008-A
DR   Wikidata; Q107116876
RX   PubMed=34352619;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg723Cys (c.2167C>T); ClinVar=VCV000014095; Zygosity=Heterozygous (PubMed=34352619).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34352619; DOI=10.1016/j.scr.2021.102455; PMCID=PMC10339835;
RA   Cao, Xu
RA   Jahng, James Won Suk
RA   Lee, Chelsea
RA   Zha, Yan-Jun
RA   Wheeler, Matthew T.
RA   Sallam, Karim
RA   Wu, Joseph C.
RT   "Generation of three induced pluripotent stem cell lines from
RT   hypertrophic cardiomyopathy patients carrying MYH7 mutations.";
RL   Stem Cell Res. 55:102455-102455(2021).
//