ID   LUMCi027-A-1
AC   CVCL_ZA19
SY   iso01LUMC0153iPKP03; LUMC0153iPKP03corr#22
DR   BioSamples; SAMEA8073006
DR   hPSCreg; LUMCi027-A-1
DR   Wikidata; Q98127087
RX   PubMed=32485643;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple_corrected; p.Lys672Argfs*12 (c.2013delC); ClinVar=VCV000202022; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32485643).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_ZA18 ! LUMCi027-A
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32485643; DOI=10.1016/j.scr.2020.101835;
RA   Meraviglia V., Arendzen C.H., Tok M., Freund C.M.A.H., Maione A.S.,
RA   Sommariva E., Bellin M.;
RT   "Generation of human induced pluripotent stem cell line LUMCi027-A and
RT   its isogenic gene-corrected line from a patient affected by
RT   arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2
RT   mutation.";
RL   Stem Cell Res. 46:101835-101835(2020).
//