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Cellosaurus SCTCi029-A (CVCL_E2U4)

[Text version]
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; 877; ALDH7A1; Simple; p.Glu427Gln (c.1279G>C); ClinVar=VCV000017994; Zygosity=Homozygous (PubMed=38936157).
Disease 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)

Cross-references
Cell line databases/resources hPSCreg; SCTCi029-A
Biological sample resources BioSamples; SAMEA115713655
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1