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Cellosaurus INNDSUi002-A (CVCL_D0G3)

[Text version]
Cell line name INNDSUi002-A
Synonyms 21-013
Accession CVCL_D0G3
Resource Identification Initiative To cite this cell line use: INNDSUi002-A (RRID:CVCL_D0G3)
Comments From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3483; ETFDH; Simple; p.Ala84Val (c.251C>T); ClinVar=VCV001451322; Zygosity=Heterozygous (PubMed=37019029).
  • Mutation; HGNC; 3483; ETFDH; Simple; p.Asp130Val (c.389A>T); ClinVar=VCV000656755; Zygosity=Heterozygous (PubMed=37019029).
Disease Multiple acyl-CoA dehydrogenase deficiency (NCIt: C84907)
Multiple acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_26791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=37019029; DOI=10.1016/j.scr.2023.103067
Zhang C., Wang D.-D., Wang Y., Sun P., Zhao D.-D., Zhao X.-Y., Zhao Y.-Y., Liu F.-C., Xu J.-W., Yan C.-Z.
Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi002-A) from a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Stem Cell Res. 69:103067-103067(2023)

Cross-references
Cell line databases/resources hPSCreg; INNDSUi002-A
Biological sample resources BioSamples; SAMEA13061467
Encyclopedic resources Wikidata; Q123032706
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2