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Cellosaurus FAMRCi005-A (CVCL_WP84)

[Text version]
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; 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
Klauzen P., Perepelina K.I., Khudiakov A.A., Zlotina A., Fomicheva Y., Pervunina T., Vershinina T., Kostareva A.A., Malashicheva A.B.
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)

Cross-references
Cell line databases/resources hPSCreg; FAMRCi005-A
SKIP; SKIP005856
Biological sample resources BioSamples; SAMEA6268134
Encyclopedic resources Wikidata; Q93549759
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number9