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Cellosaurus BCHNEi001-A (CVCL_C4S7)

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Cell line name BCHNEi001-A
Synonyms BCHNCi001-A
Accession CVCL_C4S7
Resource Identification Initiative To cite this cell line use: BCHNEi001-A (RRID:CVCL_C4S7)
Comments From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1424; CAD; Simple; p.Tyr36Tyrfs*15 (c.108delC); Zygosity=Heterozygous (PubMed=36283272).
  • Mutation; HGNC; HGNC:1424; CAD; Simple; p.Val1259Met (c.3775G>A); Zygosity=Heterozygous (PubMed=36283272).
Disease Developmental and epileptic encephalopathy 50 (NCIt: C190868)
CAD-CDG (ORDO: Orphanet_448010)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=36283272; DOI=10.1016/j.scr.2022.102947
Ling Zhou, Han Xu, Ye Wu, Fang Fang;
Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations.
Stem Cell Res. 65:102947-102947(2022)

Cross-references
Cell line databases/resources hPSCreg; BCHNCi001-A
hPSCreg; BCHNEi001-A
Biological sample resources BioSamples; SAMEA111439174
Encyclopedic resources Wikidata; Q116048585
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4