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Cellosaurus FAMRCi004-A (CVCL_WP82)

[Text version]
Cell line name FAMRCi004-A
Synonyms DSPL1
Accession CVCL_WP82
Resource Identification Initiative To cite this cell line use: FAMRCi004-A (RRID:CVCL_WP82)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
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; 3052; DSP; Simple; p.His1684Arg (c.5051A>G); ClinVar=VCV000431487; Zygosity=Heterozygous (PubMed=32062131).
Disease Sick sinus syndrome (NCIt: C62244)
Progressive familial heart block, type Ia (NCIt: C126651)
Familial sick sinus syndrome (ORDO: Orphanet_166282)
Familial progressive cardiac conduction defect (ORDO: Orphanet_871)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WP83 ! FAMRCi004-B
Sex of cell Male
Age at sampling 19Y
Category Induced pluripotent stem cell

PubMed=32062131; DOI=10.1016/j.scr.2020.101720
Khudiakov A.A., Perepelina K.I., Klauzen P., Zlotina A., Gusev K., Kaznacheyeva E., Malashicheva A.B., Kostareva A.A.
Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg.
Stem Cell Res. 43:101720-101720(2020)

Cell line databases/resources hPSCreg; FAMRCi004-A
SKIP; SKIP005860
Biological sample resources BioSamples; SAMEA6260535
Encyclopedic resources Wikidata; Q93549748
Entry history
Entry creation05-Jul-2019
Last entry update05-Oct-2023
Version number11