Cellosaurus cell line FAMRCi004-A (CVCL

Cellosaurus FAMRCi004-A (CVCL_WP82)

Cross-references
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; 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
Publications	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 creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	12