ID   LUMCi059-A-1
AC   CVCL_E3PC
SY   Iso71LUMCi232KLHL01
DR   BioSamples; SAMEA115597187
DR   hPSCreg; LUMCi059-A-1
RX   PubMed=39317060;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:25947; KLHL24; Simple_corrected; p.Met1Thr (c.2T>C); ClinVar=VCV000370042; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39317060).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C179709; Intermediate epidermolysis bullosa simplex with cardiomyopathy
DI   ORDO; Orphanet_508529; Intermediate epidermolysis bullosa simplex with cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E3PB ! LUMCi059-A
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39317060; DOI=10.1016/j.scr.2024.103551;
RA   Pachis S.T., Ramovs V., Freund C.M.A.H., Has C., Raymond K.;
RT   "Generation and genetic repair of two human induced pluripotent stem
RT   cell lines from patients with epidermolysis bullosa simplex
RT   associated with a heterozygous mutation in the translation initiation
RT   codon of KLHL24.";
RL   Stem Cell Res. 81:103551-103551(2024).
//