ID   ICANi002-A-5
AC   CVCL_D6MB
SY   PKP2-H695VfsX5; ICAN-PKP2-H695-W11
DR   BioSamples; SAMEA114772233
DR   hPSCreg; ICANi002-A-5
DR   Wikidata; Q127382311
RX   PubMed=38382214;
CC   From: INSERM U1166-Institute of Cardiometabolism and Nutrition; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple_edited; p.His695Valfs*5 (c.2083_2089delCATGTTG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38382214).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=38382214
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 12,13
ST   D18S51: 17,18
ST   D21S11: 29,30
ST   D3S1358: 16,18
ST   D5S818: 10,11
ST   D7S820: 8,12
ST   D8S1179: 11,12
ST   FGA: 21,25
ST   Penta D: 9,11
ST   Penta E: 7,12
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C173471; Familial arrhythmogenic right ventricular dysplasia 9
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5EX ! ICANi002-A
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38382214; DOI=10.1016/j.scr.2024.103341;
RA   Bobin P., Duboscq-Bidot L., Blandin C., Perret C., Balse E.,
RA   Gandjbakhch E., Fontaine V., Villard E.;
RT   "Generation of CRISPR/Cas9 edited human induced pluripotent stem cell
RT   line carrying the heterozygous p.H695VfsX5 frameshift mutation in the
RT   exon 10 of the PKP2 gene.";
RL   Stem Cell Res. 76:103341-103341(2024).
//