ID   HKUi002-A
AC   CVCL_ZA51
SY   HKUi002-A-AYC12; AYC12
DR   BioSamples; SAMEA6880596
DR   hPSCreg; HKUi002-A
DR   Wikidata; Q98126688
RX   PubMed=33099108;
CC   From: Department of Paediatrics and Adolescent Medicine, University of Hong Kong; Hong Kong; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; c.31+1G>A; ClinVar=VCV001070319; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=33099108).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84673; Dilated cardiomyopathy
DI   ORDO; Orphanet_217604; Dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=33099108; DOI=10.1016/j.scr.2020.102040;
RA   Zhu S., Law A.H.-Y., Deng R.-X., Poon E.N.-Y., Lo C.-W., Kwong A.K.-Y.,
RA   Liang R., Chan K.Y.-K., Wong W.-L., Tan-Un K.-C., Pijnappel W.W.M.P.,
RA   Chan G.C.-F., Chan S.H.-S.;
RT   "Generation of genomic-integration-free human induced pluripotent stem
RT   cells and the derived cardiomyocytes of X-linked dilated
RT   cardiomyopathy from DMD gene mutation.";
RL   Stem Cell Res. 49:102040-102040(2020).
//