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Cellosaurus GM13411 (CVCL_8A61)

[Text version]
Cell line name GM13411
Accession CVCL_8A61
Resource Identification Initiative To cite this cell line use: GM13411 (RRID:CVCL_8A61)
Comments Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=8042671).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DR24 (L749.1)CVCL_A4QJ (T8993G iPSC clone 1)CVCL_A4QK (T8993G iPSC clone 2)
CVCL_A4QL (T8993G iPSC clone 3)
Sex of cell Male
Age at sampling 8M
Category Finite cell line
Publications

PubMed=8042671; DOI=10.1002/ajmg.1320500310
Pastores G.M., Santorelli F.M., Shanske S., Gelb B.D., Fyfe-Kirshner B.S., Wolfe D., Willner J.P.
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
Am. J. Med. Genet. 50:265-271(1994)

PubMed=30471880; DOI=10.1016/j.kint.2018.08.038; PMCID=PMC6389356
Johnson S.C., Martinez F., Bitto A., Gonzalez B., Tazaerslan C., Cohen C., Delaval L., Timsit J., Knebelmann B., Terzi F., Mahal T., Zhu Y.-Z., Morgan P.G., Sedensky M.M., Kaeberlein M., Legendre C., Suh Y., Canaud G.
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.
Kidney Int. 95:455-466(2019)

Cross-references
Cell line collections (Providers) Coriell; GM13411
Cell line databases/resources CLO; CLO_0012853
Biological sample resources BioSample; SAMN00802348
Encyclopedic resources Wikidata; Q54846509
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12