ID   ZJ-hiPSC 3
AC   CVCL_A4HC
SY   ZJ3
DR   SKIP; SKIP003134
DR   Wikidata; Q105511858
RX   PubMed=29452156;
CC   From: Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:9386; PRKAG2; Simple; p.Arg302Gln (c.905G>A); ClinVar=VCV000006846; Zygosity=Heterozygous (PubMed=29452156).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177249; Familial hypertrophic cardiomyopathy type 6
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4HD ! ZJ-hiPSC 6
OI   CVCL_A4HE ! ZJ-hiPSC 11
SX   Male
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=29452156; DOI=10.1016/j.yjmcc.2018.02.007;
RA   Zhan Y.-K., Sun X.-L., Li B., Cai H.-H., Xu C., Liang Q.-Q., Lu C.,
RA   Qian R.-Z., Chen S.-F., Yin L.-H., Sheng W., Huang G.-Y., Sun A.-J.,
RA   Ge J.-B., Sun N.;
RT   "Establishment of a PRKAG2 cardiac syndrome disease model and
RT   mechanism study using human induced pluripotent stem cells.";
RL   J. Mol. Cell. Cardiol. 117:49-61(2018).
//