ID   GM24529
AC   CVCL_BX19
DR   Coriell; GM24529
DR   Wikidata; Q54853779
RX   PubMed=30471880;
CC   Sequence variation: Mutation; HGNC; 20278; NUBPL; Simple; p.Leu104Pro (c.311T>C); ClinVar=VCV000209179; Zygosity=Heterozygous (Coriell=GM24529).
CC   Sequence variation: Mutation; HGNC; 20278; NUBPL; Simple; c.815-27T>C; ClinVar=VCV000050317; Zygosity=Heterozygous (Coriell=GM24529).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98994; NADH dehydrogenase deficiency
DI   ORDO; Orphanet_2609; Isolated complex I deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 12
//
RX   PubMed=30471880; DOI=10.1016/j.kint.2018.08.038; PMCID=PMC6389356;
RA   Johnson S.C., Martinez F., Bitto A., Gonzalez B., Tazaerslan C.,
RA   Cohen C., Delaval L., Timsit J., Knebelmann B., Terzi F., Mahal T.,
RA   Zhu Y.-Z., Morgan P.G., Sedensky M.M., Kaeberlein M., Legendre C.,
RA   Suh Y., Canaud G.;
RT   "mTOR inhibitors may benefit kidney transplant recipients with
RT   mitochondrial diseases.";
RL   Kidney Int. 95:455-466(2019).
//