ID   LUMCi046-A
AC   CVCL_A7QS
SY   LUMC0146iKLHL10
DR   BioSamples; SAMEA8868391
DR   hPSCreg; LUMCi046-A
DR   Wikidata; Q107115883
RX   PubMed=34688992;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Chilean.
CC   Sequence variation: Mutation; HGNC; HGNC:25947; KLHL24; Simple; p.Met1Arg (c.2T>G); Zygosity=Heterozygous (PubMed=34688992).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
CH   CVCL_A7RZ ! LUMCi046-A-1
//
RX   PubMed=34688992; DOI=10.1016/j.scr.2021.102582;
RA   Ramovs, Veronika
RA   Fuentes, Ignacia
RA   Freund, Christian M.A.H.
RA   Mikkers, Harald M.M.
RA   Mummery, Christine Lindsay
RA   Raymond, Karine
RT   "Generation and genetic repair of two human induced pluripotent cell
RT   lines from patients with epidermolysis bullosa simplex and dilated
RT   cardiomyopathy associated with a heterozygous mutation in the
RT   translation initiation codon of KLHL24.";
RL   Stem Cell Res. 57:102582-102582(2021).
//