ID   FAMRCi002-A
AC   CVCL_QX89
DR   BioSamples; SAMEA104387932
DR   hPSCreg; FAMRCi002-A
DR   Wikidata; Q54833243
RX   PubMed=29034897;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2770; DES; Simple; c.735+1G>A (Ex3del); ClinVar=VCV000163027; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29034897).
CC   Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
CC   Cell type: Mesenchymal stem cell of adipose tissue; CL=CL_0002570.
DI   NCIt; C206515; Myofibrillar myopathy 1
DI   ORDO; Orphanet_98909; Desminopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 10-09-24; Version: 13
//
RX   PubMed=29034897; DOI=10.1016/j.scr.2017.08.015;
RA   Khudiakov A.A., Kostina D., Zlotina A., Nikulina T., Sergushichev A.,
RA   Gudkova A., Tomilin A.N., Malashicheva A.B., Kostareva A.A.;
RT   "Generation of iPSC line from desmin-related cardiomyopathy patient
RT   carrying splice site mutation of DES gene.";
RL   Stem Cell Res. 24:77-80(2017).
//