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Cellosaurus BCHCNi001-A (CVCL_B5RW)

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Cell line name BCHCNi001-A
Accession CVCL_B5RW
Resource Identification Initiative To cite this cell line use: BCHCNi001-A (RRID:CVCL_B5RW)
Comments From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
Population: Chinese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25695; CARS2; Simple; p.Gly476Arg (c.1426G>A); Zygosity=Homozygous (PubMed=34953328).
Disease Combined oxidative phosphorylation deficiency 27 (NCIt: C185238)
Combined oxidative phosphorylation defect type 27 (ORDO: Orphanet_477774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=34953328; DOI=10.1016/j.scr.2021.102633
Man-Ting Xu, Xin Duan, Xiao-Tun Ren, Zhi-Mei Liu, Shu-Hua Chen, Fang Fang;
Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation.
Stem Cell Res. 59:102633-102633(2022)

Cross-references
Cell line databases/resources hPSCreg; BCHCNi001-A
Encyclopedic resources Wikidata; Q111732955
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5