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Cellosaurus IUFi002-A (CVCL_C6Q5)

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Cell line name IUFi002-A
Synonyms DU179R
Accession CVCL_C6Q5
Resource Identification Initiative To cite this cell line use: IUFi002-A (RRID:CVCL_C6Q5)
Comments From: Leibniz Research Institute for Environmental Medicine; Dusseldorf; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Arg557Ter (c.1671C>T); ClinVar=VCV000050923; Zygosity=Heterozygous (PubMed=36403546).
  • Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Asp618Asn (c.1854G>A); Zygosity=Heterozygous (PubMed=36403546).
Disease Leigh disease (NCIt: C84814)
NADH dehydrogenase deficiency (NCIt: C98994)
Isolated complex I deficiency (ORDO: Orphanet_2609)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=36403546; DOI=10.1016/j.scr.2022.102971
Onofrio Valente, Jochen Dobner, Haribaskar Ramachandran, Barbara Hildebrandt, Felix Distelmaier, Natascia Ventura, Andrea Rossi;
Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene.
Stem Cell Res. 65:102971-102971(2022)

Cross-references
Cell line databases/resources hPSCreg; IUFi002-A
Biological sample resources BioSamples; SAMEA111528658
Encyclopedic resources Wikidata; Q117704563
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4