ID   LUMCi045-A-1
AC   CVCL_A7RY
SY   iso01LUMC0145iKLHL01
DR   BioSamples; SAMEA8868395
DR   hPSCreg; LUMCi045-A-1
DR   Wikidata; Q107115881
RX   PubMed=34688992;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Chilean.
CC   Sequence variation: Mutation; HGNC; 25947; KLHL24; Simple_corrected; p.Met1Arg (c.2T>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34688992).
CC   Sequence variation: Mutation; HGNC; 25947; KLHL24; Simple_edited; p.Val2Val (c.6A>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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)
HI   CVCL_A7QR ! LUMCi045-A
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
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).
//