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Cellosaurus ICANi002-A-5 (CVCL_D6MB)

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Cell line name ICANi002-A-5
Synonyms PKP2-H695VfsX5; ICAN-PKP2-H695-W11
Accession CVCL_D6MB
Resource Identification Initiative To cite this cell line use: ICANi002-A-5 (RRID:CVCL_D6MB)
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:9024; PKP2; Simple_edited; p.His695Valfs*5 (c.2083_2089delCATGTTG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38382214).
Disease Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471)
Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
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
STR profile Source(s): PubMed=38382214

Markers:
AmelogeninX,Y
CSF1PO10,12
D3S135816,18
D5S81810,11
D7S8208,12
D8S117911,12
D13S31711,12
D16S53912,13
D18S5117,18
D21S1129,30
FGA21,25
Penta D9,11
Penta E7,12
TH019
TPOX8,11
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=38382214; DOI=10.1016/j.scr.2024.103341
Pierre Bobin, Laetitia Duboscq-Bidot, Camille Blandin, Claire Perret, Elise Balse, Estelle Gandjbakhch, Vincent Fontaine, Eric Villard;
Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene.
Stem Cell Res. 76:103341-103341(2024)

Cross-references
Cell line databases/resources hPSCreg; ICANi002-A-5
Biological sample resources BioSamples; SAMEA114772233
Encyclopedic resources Wikidata; Q127382311
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3