Cellosaurus cell line BCHNDi001-A (CVCL

Cross-references
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; HGNC:25576; NAXD; Simple; p.Thr35Phefs*63 (c.102_103delAT) (c.101_102delTA); ClinVar=VCV001703003; Zygosity=Heterozygous (PubMed=38387170). Mutation; HGNC; 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 Chao-Long Xu, Ling Zhou, Hua-Fang Jiang, Tian-Yu Song, Zhi-Mei Liu, Xin Duan, Fang Fang; 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)
Cell line databases/resources	hPSCreg; BCHNDi001-A
Biological sample resources	BioSamples; SAMEA114745477
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2