ID   INSRMi012-C
AC   CVCL_C9E0
SY   PC173c11; PC173T19
DR   BioSamples; SAMEA115046009
DR   hPSCreg; INSRMi012-C
DR   Wikidata; Q123032709
RX   PubMed=38354647;
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:2770; DES; Simple; p.Asp214_Glu245del (c.735+3A>G); ClinVar=VCV000066419; Zygosity=Heterozygous (PubMed=38354647).
CC   Omics: Variations; 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)
OI   CVCL_C9DY ! INSRMi012-A
OI   CVCL_C9DZ ! INSRMi012-B
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 5
//
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).
//