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Cellosaurus ICANi002-A-4 (CVCL_D6MA)

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Cell line name ICANi002-A-4
Synonyms M468M-C19; ICAN_BAG3_M468MC19
Accession CVCL_D6MA
Resource Identification Initiative To cite this cell line use: ICANi002-A-4 (RRID:CVCL_D6MA)
Comments From: INSERM U1166-Institute of Cardiometabolism and Nutrition; Paris; France.
Population: Caucasian.
Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:939; BAG3; Simple_edited; p.Val468Met (c.1402G>A); ClinVar=VCV001771846; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38183888).
Disease Dilated cardiomyopathy-1HH (NCIt: C192082)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5EX (ICANi002-A)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=38183888; DOI=10.1016/j.scr.2023.103294
Laetitia Duboscq-Bidot, Benedicte Hoareau-Coudert, Flavie Ader, Vincent Fontaine, Eric Villard;
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying BAG3 V468M mutation in its BAG domain.
Stem Cell Res. 74:103294-103294(2024)

Cross-references
Cell line databases/resources hPSCreg; ICANi002-A-4
Biological sample resources BioSamples; SAMEA114332063
Encyclopedic resources Wikidata; Q127382309
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3