Cellosaurus cell line INNDSUi002-A (CVCL

Cellosaurus INNDSUi002-A (CVCL_D0G3)

Cross-references
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; HGNC:3483; ETFDH; Simple; p.Ala84Val (c.251C>T); ClinVar=VCV001451322; Zygosity=Heterozygous (PubMed=37019029). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; INNDSUi002-A
Biological sample resources	BioSamples; SAMEA13061467
Encyclopedic resources	Wikidata; Q123032706
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3