| Cell line name |
Me32a |
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| Accession |
CVCL_UT42 |
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| Resource Identification Initiative |
To cite this cell line use: Me32a (RRID:CVCL_UT42) |
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| Comments |
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:869; ATP7A; Unexplicit; 4bp deletion within exon 6; Zygosity=Unspecified (PubMed=12385784).
|
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| Disease |
Menkes disease (NCIt: C75486)
Menkes disease (ORDO: Orphanet_565) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Children:
|
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| Category |
Finite cell line |
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| Publications | PubMed=9813047; DOI=10.1074/jbc.273.47.31375
La Fontaine S., Firth S.D., Camakaris J., Englezou A., Theophilos M.B., Petris M.J., Howie M., Lockhart P.J., Greenough M., Brooks H., Reddel R.R., Mercer J.F.B.
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
J. Biol. Chem. 273:31375-31380(1998) PubMed=12385784; DOI=10.1016/S0925-4439(02)00164-3
Lockhart P.J., La Fontaine S., Firth S.D., Greenough M., Camakaris J., Mercer J.F.B.
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.
Biochim. Biophys. Acta 1588:189-194(2002) PubMed=20372979; DOI=10.1007/s10534-010-9332-2
Southon A., Palstra N., Veldhuis N., Gaeth A., Robin C., Burke R., Camakaris J.
Conservation of copper-transporting P(IB)-type ATPase function.
BioMetals 23:681-694(2010) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q95988211
|
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| Entry history |
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| Entry creation | 25-Feb-2019 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 7 |
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