ID   Me32a
AC   CVCL_UT42
DR   Wikidata; Q95988211
RX   PubMed=9813047;
RX   PubMed=12385784;
RX   PubMed=20372979;
CC   Sequence variation: Mutation; HGNC; HGNC:869; ATP7A; Unexplicit; 4bp deletion within exon 6; Zygosity=Unspecified (PubMed=12385784).
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)
SX   Sex unspecified
AG   Age unspecified
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 14-08-25; Version: 8
CH   CVCL_A8QS ! Me32A-DmATP7
CH   CVCL_UT43 ! Me32a-T22/2L
//
RX   PubMed=9813047; DOI=10.1074/jbc.273.47.31375;
RA   La Fontaine, Sharon
RA   Firth, Stephen D.
RA   Camakaris, James
RA   Englezou, Anna
RA   Theophilos, Michael B.
RA   Petris, Michael J.
RA   Howie, Michelle
RA   Lockhart, Paul J.
RA   Greenough, Mark
RA   Brooks, Hilary
RA   Reddel, Roger Robert
RA   Mercer, Julian 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).
//
RX   PubMed=20372979; DOI=10.1007/s10534-010-9332-2;
RA   Southon, Adam
RA   Palstra, Nickless
RA   Veldhuis, Nicholas
RA   Gaeth, Ann
RA   Robin, Charles
RA   Burke, Richard
RA   Camakaris, James
RT   "Conservation of copper-transporting P(IB)-type ATPase function.";
RL   BioMetals 23:681-694(2010).
//
RX   PubMed=12385784; DOI=10.1016/S0925-4439(02)00164-3;
RA   Lockhart, Paul J.
RA   La Fontaine, Sharon
RA   Firth, Stephen D.
RA   Greenough, Mark
RA   Camakaris, James
RA   Mercer, Julian F.B.
RT   "Correction of the copper transport defect of Menkes patient
RT   fibroblasts by expression of two forms of the sheep Wilson ATPase.";
RL   Biochim. Biophys. Acta 1588:189-194(2002).
//