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; HGNC:2770; DES; Simple; p.Glu439Lys (c.1315G>A); ClinVar=VCV000265838; 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)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=38354647; DOI=10.1016/j.scr.2024.103338;
RA   Joanne, Pierre
RA   Hovhannisyan, Yeranuhi
RA   Simon, Alexandre
RA   Revet, Gaelle
RA   Diot, Romain
RA   Friob, Gabriel
RA   Calin, Denisa
RA   Li, Zhen-Lin
RA   Behin, Anthony
RA   Wahbi, Karim
RA   Tachdjian, Gerard
RA   Agbulut, Onnik
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).
//