Cellosaurus cell line FAMRCi005-A (CVCL

Cross-references
Cell line name	FAMRCi005-A
Synonyms	LMNA B4
Accession	CVCL_WP84
Resource Identification Initiative	To cite this cell line use: FAMRCi005-A (RRID:CVCL_WP84)
Comments	From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Asp357Val (c.1070A>T); ClinVar=VCV000428603; Zygosity=Heterozygous (PubMed=32062135).
Disease	Dilated cardiomyopathy-1A (NCIt: C165596) Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WP85 ! FAMRCi005-B
Sex of cell	Female
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=32062135; DOI=10.1016/j.scr.2020.101719 Polina Klauzen, Kseniya I. Perepelina, Aleksandr A. Khudiakov, Anna Zlotina, Yulia Fomicheva, Tatiana M. Pervunina, Tatiana L. Vershinina, Anna A. Kostareva, Anna B. Malashicheva; Generation of two induced pluripotent stem cell lines (FAMRCi005-A and FAMRCi005-B) from patient carrying genetic variant LMNA p.Asp357Val. Stem Cell Res. 43:101719-101719(2020)
Cell line databases/resources	hPSCreg; FAMRCi005-A SKIP; SKIP005856
Biological sample resources	BioSamples; SAMEA6268134
Encyclopedic resources	Wikidata; Q93549759
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	10