ID   FHUSTCi002-A
AC   CVCL_C1T4
DR   BioSamples; SAMEA110183697
DR   hPSCreg; FHUSTCi002-A
DR   Wikidata; Q114311443
RX   PubMed=35914483;
CC   From: The First Affiliated Hospital of USTC, Division of life Science and Medicine, University of Science and Technology of China; Hefei; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 25538; DARS2; Simple; p.Arg76Serfs*5 (c.228-21_228-20delinsC); ClinVar=VCV000001057; Zygosity=Heterozygous (PubMed=35914483).
CC   Sequence variation: Mutation; HGNC; 25538; DARS2; Simple; p.Tyr173Cys (c.518A>G); Zygosity=Heterozygous (PubMed=35914483).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188991; Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
DI   ORDO; Orphanet_137898; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35914483; DOI=10.1016/j.scr.2022.102872;
RA   Zhang A.-L., Lu J.-P., Xiao F.;
RT   "An induced pluripotent stem cell line (FHUSTCi002-A) derived from a
RT   patient with leucoencephalopathy with brain stem and spinal cord
RT   involvement and lactate elevation.";
RL   Stem Cell Res. 63:102872-102872(2022).
//