ID   BCHNDi001-A
AC   CVCL_D6NP
DR   BioSamples; SAMEA114745477
DR   hPSCreg; BCHNDi001-A
RX   PubMed=38387170;
CC   From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 25576; NAXD; Simple; p.Thr35Phefs*63 (c.102_103delAT) (c.101_102delTA); ClinVar=VCV001703003; Zygosity=Heterozygous (PubMed=38387170).
CC   Sequence variation: Mutation; HGNC; 25576; NAXD; Simple; p.Ile106Met (c.318C>G); ClinVar=VCV001703002; Zygosity=Heterozygous (PubMed=38387170).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206115; Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2
DI   ORDO; Orphanet_555402; NAD(P)HX dehydratase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38387170; DOI=10.1016/j.scr.2024.103346;
RA   Xu C.-L., Zhou L., Jiang H.-F., Song T.-Y., Liu Z.-M., Duan X., Fang F.;
RT   "Establishment of an iPSC line (BCHNDi001-A) from a patient with
RT   nicotinamide nucleotide repair system deficiency caused by biallelic
RT   NAXD mutations.";
RL   Stem Cell Res. 76:103346-103346(2024).
//