Cellosaurus cell line SCTCi029-A (CVCL

Cross-references
Cell line name	SCTCi029-A
Synonyms	IPS22-00008; LUMC0248iPDE02
Accession	CVCL_E2U4
Resource Identification Initiative	To cite this cell line use: SCTCi029-A (RRID:CVCL_E2U4)
Comments	From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:877; ALDH7A1; Simple; p.Glu427Gln (c.1279G>C); ClinVar=VCV000017994; Zygosity=Homozygous (PubMed=38936157).
Disease	Early-onset vitamin B6-dependent epilepsy-4 (NCIt: C210888) Pyridoxine-dependent epilepsy (ORDO: Orphanet_3006)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=38936157; DOI=10.1016/j.scr.2024.103480 Schuurmans I.M.E., van Karnebeek C.D.M., Hoogendoorn A.D.M., Nadif Kasri N., Garanto A. Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis. Stem Cell Res. 79:103480-103480(2024)
Cell line databases/resources	hPSCreg; SCTCi029-A
Biological sample resources	BioSamples; SAMEA115713655
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2