ID   ICSSUi004-A
AC   CVCL_D6NU
SY   hiPSC-CRYAB-c.326A>G; hiPSC-CRYABD109G
DR   BioSamples; SAMEA115064445
DR   hPSCreg; ICSSUi004-A
RX   PubMed=38428347;
CC   From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 2389; CRYAB; Simple; p.Asp109Gly (c.326A>G); ClinVar=VCV000265829; Zygosity=Heterozygous (PubMed=38428347).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C62798; Restrictive cardiomyopathy
DI   ORDO; Orphanet_217632; Restrictive cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38428347; DOI=10.1016/j.scr.2024.103370;
RA   Li J.-X., Jiang J.-X., Ye L.-Q., Lian Z.-P., Gong H., Lei W.,
RA   Dai Y.-X., Hu S.-J.;
RT   "Generation of human induced pluripotent stem cell line from a patient
RT   with restrictive cardiomyopathy.";
RL   Stem Cell Res. 76:103370-103370(2024).
//