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Cellosaurus BCHNDi001-A (CVCL_D6NP)

[Text version]
Cell line name BCHNDi001-A
Accession CVCL_D6NP
Resource Identification Initiative To cite this cell line use: BCHNDi001-A (RRID:CVCL_D6NP)
Comments From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 25576; NAXD; Simple; p.Thr35Phefs*63 (c.102_103delAT) (c.101_102delTA); ClinVar=VCV001703003; Zygosity=Heterozygous (PubMed=38387170).
  • Mutation; HGNC; 25576; NAXD; Simple; p.Ile106Met (c.318C>G); ClinVar=VCV001703002; Zygosity=Heterozygous (PubMed=38387170).
Disease Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2 (NCIt: C206115)
NAD(P)HX dehydratase deficiency (ORDO: Orphanet_555402)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=38387170; DOI=10.1016/j.scr.2024.103346
Xu C.-L., Zhou L., Jiang H.-F., Song T.-Y., Liu Z.-M., Duan X., Fang F.
Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.
Stem Cell Res. 76:103346-103346(2024)

Cross-references
Cell line databases/resources hPSCreg; BCHNDi001-A
Biological sample resources BioSamples; SAMEA114745477
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1