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
//
RX   PubMed=34688992; DOI=10.1016/j.scr.2021.102582;
RA   Ramovs V., Fuentes I., Freund C.M.A.H., Mikkers H.M.M., Mummery C.L.,
RA   Raymond K.;
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).
//