ID   SCTCi028-A
AC   CVCL_E2U3
SY   IPS22-00007; LUMC0249iPDE02
DR   BioSamples; SAMEA115713635
DR   hPSCreg; SCTCi028-A
RX   PubMed=38936157;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:877; ALDH7A1; Simple; p.Glu427Gln (c.1279G>C); ClinVar=VCV000017994; Zygosity=Homozygous (PubMed=38936157).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C210888; Early-onset vitamin B6-dependent epilepsy-4
DI   ORDO; Orphanet_3006; Pyridoxine-dependent epilepsy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38936157; DOI=10.1016/j.scr.2024.103480;
RA   Schuurmans I.M.E., van Karnebeek C.D.M., Hoogendoorn A.D.M.,
RA   Nadif Kasri N., Garanto A.;
RT   "Generation of hiPSC lines from four pyridoxine-dependent epilepsy
RT   (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in
RT   homozygosis.";
RL   Stem Cell Res. 79:103480-103480(2024).
//