ID   SCVIi037-A
AC   CVCL_B7A1
SY   SCVI-672; SCVI 672; SCVI672
DR   BioSamples; SAMEA13252309
DR   hPSCreg; SCVIi037-A
DR   Wikidata; Q112044529
RX   PubMed=35413566;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Southeast Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Ile154Leufs*5 (c.459delC); ClinVar=VCV000042755; Zygosity=Heterozygous (PubMed=35413566).
CC   Sequence variation: Mutation; HGNC; HGNC:9386; PRKAG2; Simple; p.Thr568Met (c.1703C>T); ClinVar=VCV000181464; Zygosity=Heterozygous (PubMed=35413566).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
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RX   PubMed=35413566; DOI=10.1016/j.scr.2022.102774; PMCID=PMC9708393;
RA   Manhas A., Jahng J.W.S., Vera C.D., Shenoy S.P., Knowles J.W.,
RA   Wu J.C.;
RT   "Generation of two iPSC lines from hypertrophic cardiomyopathy
RT   patients carrying MYBPC3 and PRKAG2 variants.";
RL   Stem Cell Res. 61:102774-102774(2022).
//