ID   LZUSHI002-A
AC   CVCL_C1UQ
SY   iPS-129
DR   BioSamples; SAMEA111310767
DR   hPSCreg; LZUSHI002-A
DR   Wikidata; Q114311902
RX   PubMed=36162333;
CC   From: Lanzhou University Second Hospital; Lanzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3483; ETFDH; Simple; p.Ser457Pro (c.1369T>C); ClinVar=VCV001040865; Zygosity=Heterozygous (PubMed=36162333).
CC   Sequence variation: Mutation; HGNC; 3483; ETFDH; Simple; p.Met617Ile (c.1851G>A); Zygosity=Heterozygous (PubMed=36162333).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84907; Multiple acyl-CoA dehydrogenase deficiency
DI   ORDO; Orphanet_26791; Multiple acyl-CoA dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36162333; DOI=10.1016/j.scr.2022.102914;
RA   Li Y., Li Y.-X., Liu H., Cheng L., Ma H.-W., Xu X.-N., Zhang N.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (LZUSHi002-A) from a MADD patient with ETFDH mutation.";
RL   Stem Cell Res. 64:102914-102914(2022).
//