Cellosaurus cell line FAMRCi006-A (CVCL

Cross-references
Cell line name	FAMRCi006-A
Synonyms	LMNA T3
Accession	CVCL_WP86
Resource Identification Initiative	To cite this cell line use: FAMRCi006-A (RRID:CVCL_WP86)
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.Arg527Pro (c.1580G>C); ClinVar=VCV000014481; Zygosity=Heterozygous (PubMed=32059175).
Disease	Muscular dystrophy congenital, LMNA-related (NCIt: C148369) Congenital muscular dystrophy due to LMNA mutation (ORDO: Orphanet_157973)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WP87 ! FAMRCi006-B
Sex of cell	Female
Age at sampling	47Y
Category	Induced pluripotent stem cell
Publications	PubMed=32059175; DOI=10.1016/j.scr.2020.101714 Perepelina K.I., Klauzen P., Khudiakov A.A., Zlotina A., Fomicheva Y., Rudenko D., Gordeev M., Sergushichev A., Malashicheva A.B., Kostareva A.A. Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNA p.Arg527Pro. Stem Cell Res. 43:101714-101714(2020)
Cell line databases/resources	hPSCreg; FAMRCi006-A SKIP; SKIP005853
Biological sample resources	BioSamples; SAMEA6275229
Encyclopedic resources	Wikidata; Q93549770
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	10