| 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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| Sex of cell |
Sex unspecified |
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| Age at sampling |
Age unspecified |
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| Category |
Finite cell line |
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| Publications | PubMed=9813047; DOI=10.1074/jbc.273.47.31375
Sharon La Fontaine, Stephen D. Firth, James Camakaris, Anna Englezou, Michael B. Theophilos, Michael J. Petris, Michelle Howie, Paul J. Lockhart, Mark Greenough, Hilary Brooks, Roger Robert Reddel, Julian F.B. Mercer;
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
Paul J. Lockhart, Sharon La Fontaine, Stephen D. Firth, Mark Greenough, James Camakaris, Julian F.B. Mercer;
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
Adam Southon, Nickless Palstra, Nicholas Veldhuis, Ann Gaeth, Charles Robin, Richard Burke, James Camakaris;
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 | 14-Aug-2025 |
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| Version number | 8 |
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