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Cellosaurus FAMRCi002-A (CVCL_QX89)

[Text version]
Cell line name FAMRCi002-A
Accession CVCL_QX89
Resource Identification Initiative To cite this cell line use: FAMRCi002-A (RRID:CVCL_QX89)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Population: Caucasian.
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Mesenchymal stem cell of adipose tissue; CL=CL_0002570.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple; c.735+1G>A (Ex3del); ClinVar=VCV000163027; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29034897).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=29034897; DOI=10.1016/j.scr.2017.08.015
Aleksandr A. Khudiakov, Daria Kostina, Anna Zlotina, Tatiana Nikulina, Alexey Sergushichev, Alexandra Gudkova, Alexey Nikolayevich Tomilin, Anna B. Malashicheva, Anna A. Kostareva;
Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.
Stem Cell Res. 24:77-80(2017)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi002-A
Biological sample resources BioSamples; SAMEA104387932
Encyclopedic resources Wikidata; Q54833243
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number14