ID   Me32a-T22/2L A12-H9
AC   CVCL_E3F0
SY   A12-H9
RX   PubMed=9813047;
CC   Sequence variation: Mutation; HGNC; HGNC:869; ATP7A; Unexplicit; 4bp deletion within exon 6; Zygosity=Unspecified (PubMed=12385784).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:869; ATP7A.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen (Note=With p.His203Gln).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pRSV-T22).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75486; Menkes disease
DI   ORDO; Orphanet_565; Menkes disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UT43 ! Me32a-T22/2L
CA   Transformed cell line
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=9813047; DOI=10.1074/jbc.273.47.31375;
RA   La Fontaine S., Firth S.D., Camakaris J., Englezou A.,
RA   Theophilos M.B., Petris M.J., Howie M., Lockhart P.J., Greenough M.,
RA   Brooks H., Reddel R.R., Mercer J.F.B.;
RT   "Correction of the copper transport defect of Menkes patient
RT   fibroblasts by expression of the Menkes and Wilson ATPases.";
RL   J. Biol. Chem. 273:31375-31380(1998).
//