Cellosaurus logo
expasy logo

Cellosaurus GM24529 (CVCL_BX19)

[Text version]
Cell line name GM24529
Accession CVCL_BX19
Resource Identification Initiative To cite this cell line use: GM24529 (RRID:CVCL_BX19)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20278; NUBPL; Simple; p.Leu104Pro (c.311T>C); ClinVar=VCV000209179; Zygosity=Heterozygous (Coriell=GM24529).
  • Mutation; HGNC; HGNC:20278; NUBPL; Simple; c.815-27T>C; ClinVar=VCV000050317; Zygosity=Heterozygous (Coriell=GM24529).
Disease NADH dehydrogenase deficiency (NCIt: C98994)
Isolated complex I deficiency (ORDO: Orphanet_2609)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Finite cell line
Publications

PubMed=30471880; DOI=10.1016/j.kint.2018.08.038; PMCID=PMC6389356
Simon C. Johnson, Frank Martinez, Alessandro Bitto, Brenda Gonzalez, Cagdas Tazaerslan, Camille Cohen, Laure Delaval, Jose Timsit, Bertrand Knebelmann, Fabiola Terzi, Tarika Mahal ...Show all 18 authors... , Yi-Zhou Zhu, Philip G. Morgan, Margaret M. Sedensky, Matt Kaeberlein, Christophe Legendre, Yousin Suh, Guillaume Canaud; Show fewer authors
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.
Kidney Int. 95:455-466(2019)

Cross-references
Cell line collections (Providers) Coriell; GM24529
Encyclopedic resources Wikidata; Q54853779
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13