| Cell line name |
MW10 |
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| Synonyms |
MW 10 |
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| Accession |
CVCL_YU31 |
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| Resource Identification Initiative |
To cite this cell line use: MW10 (RRID:CVCL_YU31) |
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| Sequence variations |
- Mutation; HGNC; HGNC:438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Heterozygous (PubMed=1409720).
- Mutation; HGNC; HGNC:438; ALPL; Simple; p.Tyr436His (c.1306T>C) (Y419H, 1482C); ClinVar=VCV000013668; Zygosity=Heterozygous (PubMed=1409720).
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| Disease |
Hypophosphatasia (NCIt: C26798)
Hypophosphatasia (ORDO: Orphanet_436) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
1-10Y |
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| Category |
Finite cell line |
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| Publications | PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246
Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P.
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992) PubMed=8675582; DOI=10.1210/jcem.81.7.8675582
Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P.
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia.
J. Clin. Endocrinol. Metab. 81:2587-2594(1996) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q95991579
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| Entry history |
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| Entry creation | 12-Mar-2020 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 7 |
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