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Cellosaurus FAMRCi006-A (CVCL_WP86)

[Text version]
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; 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

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 creation05-Jul-2019
Last entry update29-Jun-2023
Version number9