ID   GM13411
AC   CVCL_8A61
DR   CLO; CLO_0012853
DR   BioSample; SAMN00802348
DR   Coriell; GM13411
DR   Wikidata; Q54846509
RX   PubMed=8042671;
RX   PubMed=30471880;
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=8042671).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=8042671; DOI=10.1002/ajmg.1320500310;
RA   Pastores G.M., Santorelli F.M., Shanske S., Gelb B.D.,
RA   Fyfe-Kirshner B.S., Wolfe D.E., Willner J.P.;
RT   "Leigh syndrome and hypertrophic cardiomyopathy in an infant with a
RT   mitochondrial DNA point mutation (T8993G).";
RL   Am. J. Med. Genet. 50:265-271(1994).
//
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).
//