ID   GM03672
AC   CVCL_8A60
SY   GM3672
DR   CLO; CLO_0015477
DR   BioSample; SAMN00808494
DR   Coriell; GM03672
DR   Wikidata; Q54838187
RX   CelloPub=CLPUB00447;
RX   PubMed=2376596;
RX   PubMed=30471880;
RX   PubMed=34091428;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7427; MT-CYB; Simple; p.Asp171Asn (m.15257G>A); ClinVar=VCV000009674; Zygosity=Heteroplasmic (from child cell line KUCFRi003-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y4M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=2376596; DOI=10.1016/S0021-9258(19)38301-2;
RA   Huh T.-L., Casazza J.P., Huh J.-W., Chi Y.-T., Song B.J.;
RT   "Characterization of two cDNA clones for pyruvate dehydrogenase E1
RT   beta subunit and its regulation in tricarboxylic acid cycle-deficient
RT   fibroblast.";
RL   J. Biol. Chem. 265:13320-13326(1990).
//
RX   PubMed=30471880; DOI=10.1016/j.kint.2018.08.038;
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).
//
RX   PubMed=34091428; DOI=10.1016/j.scr.2021.102392;
RA   Son D., Zheng J., Kim I.Y., You S.;
RT   "Self-replicative mRNA-mediated generation of induced pluripotent stem
RT   cell line from a 1-year-old Leigh syndrome patient with mitochondrial
RT   DNA cytochrome b mutation.";
RL   Stem Cell Res. 54:102392-102392(2021).
//