ID   INNDSUi002-A
AC   CVCL_D0G3
SY   21-013
DR   BioSamples; SAMEA13061467
DR   hPSCreg; INNDSUi002-A
DR   Wikidata; Q123032706
RX   PubMed=37019029;
CC   From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:3483; ETFDH; Simple; p.Ala84Val (c.251C>T); ClinVar=VCV001451322; Zygosity=Heterozygous (PubMed=37019029).
CC   Sequence variation: Mutation; HGNC; HGNC:3483; ETFDH; Simple; p.Asp130Val (c.389A>T); ClinVar=VCV000656755; Zygosity=Heterozygous (PubMed=37019029).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   36Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37019029; DOI=10.1016/j.scr.2023.103067;
RA   Zhang, Chen
RA   Wang, Dong-Dong
RA   Wang, Yu
RA   Sun, Ping
RA   Zhao, Dan-Dan
RA   Zhao, Xiao-Yun
RA   Zhao, Yu-Ying
RA   Liu, Fu-Chen
RA   Xu, Jing-Wen
RA   Yan, Chuan-Zhu
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (INNDSUi002-A) from a patient with riboflavin-responsive multiple
RT   acyl-CoA dehydrogenase deficiency.";
RL   Stem Cell Res. 69:103067-103067(2023).
//