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Cellosaurus LZUSHI002-A (CVCL_C1UQ)

[Text version]
Cell line name LZUSHI002-A
Synonyms iPS-129
Accession CVCL_C1UQ
Resource Identification Initiative To cite this cell line use: LZUSHI002-A (RRID:CVCL_C1UQ)
Comments From: Lanzhou University Second Hospital; Lanzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3483; ETFDH; Simple; p.Ser457Pro (c.1369T>C); ClinVar=VCV001040865; Zygosity=Heterozygous (PubMed=36162333).
  • Mutation; HGNC; HGNC:3483; ETFDH; Simple; p.Met617Ile (c.1851G>A); Zygosity=Heterozygous (PubMed=36162333).
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 10Y
Category Induced pluripotent stem cell
Publications

PubMed=36162333; DOI=10.1016/j.scr.2022.102914
Li Y., Li Y.-X., Liu H., Cheng L., Ma H.-W., Xu X.-N., Zhang N.
Generation of a human induced pluripotent stem cell line (LZUSHi002-A) from a MADD patient with ETFDH mutation.
Stem Cell Res. 64:102914-102914(2022)

Cross-references
Cell line databases/resources hPSCreg; LZUSHI002-A
Biological sample resources BioSamples; SAMEA111310767
Encyclopedic resources Wikidata; Q114311902
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5