ID   INSRMi020-A
AC   CVCL_D6P4
SY   PC130K2c
DR   BioSamples; SAMEA115046805
DR   hPSCreg; INSRMi020-A
RX   PubMed=38354647;
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; 2770; DES; Simple; p.Glu439Lys (c.1315G>A); ClinVar=VCV000265838; Zygosity=Heterozygous (PubMed=38354647).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206515; Myofibrillar myopathy 1
DI   ORDO; Orphanet_98909; Desminopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38354647; DOI=10.1016/j.scr.2024.103338;
RA   Joanne P., Hovhannisyan Y., Simon A., Revet G., Diot R., Friob G.,
RA   Calin D., Li Z.-L., Behin A., Wahbi K., Tachdjian G., Agbulut O.;
RT   "Generation of human induced pluripotent stem cell lines from five
RT   patients with myofibrillar myopathy carrying different heterozygous
RT   mutations in the DES gene.";
RL   Stem Cell Res. 76:103338-103338(2024).
//