ID   ICANi002-A-4
AC   CVCL_D6MA
SY   M468M-C19; ICAN_BAG3_M468MC19
DR   BioSamples; SAMEA114332063
DR   hPSCreg; ICANi002-A-4
DR   Wikidata; Q127382309
RX   PubMed=38183888;
CC   From: INSERM U1166-Institute of Cardiometabolism and Nutrition; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 939; BAG3; Simple_edited; p.Val468Met (c.1402G>A); ClinVar=VCV001771846; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38183888).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192082; Dilated cardiomyopathy-1HH
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5EX ! ICANi002-A
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38183888; DOI=10.1016/j.scr.2023.103294;
RA   Duboscq-Bidot L., Hoareau-Coudert B., Ader F., Fontaine V., Villard E.;
RT   "Generation of CRISPR-Cas9 edited human induced pluripotent stem cell
RT   line carrying BAG3 V468M mutation in its BAG domain.";
RL   Stem Cell Res. 74:103294-103294(2024).
//