ID   SCVIi006-A
SY   SCVI-211; SCVI211
DR   hPSCreg; SCVIi006-A
DR   Wikidata; Q107116874
RX   PubMed=34352619;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Glu1356Lys (c.4066G>A); ClinVar=VCV000164294; Zygosity=Heterozygous (PubMed=34352619).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   73Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 23-09-21; Version: 2
RX   PubMed=34352619; DOI=10.1016/j.scr.2021.102455;
RA   Cao X., Jahng J.W.S., Lee C., Zha Y.-J., Wheeler M.T., Sallam K.,
RA   Wu J.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).