| Cell line name |
GM08690 |
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| Synonyms |
GM 8690; GM8690 |
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| Accession |
CVCL_W036 |
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| Resource Identification Initiative |
To cite this cell line use: GM08690 (RRID:CVCL_W036) |
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| Comments |
Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Unspecified (PubMed=8675582).
|
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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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| Originate from same individual |
CVCL_W033 ! GM08373
CVCL_W034 ! GM08435 |
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| Sex of cell |
Female |
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| Age at sampling |
1Y7M |
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| Category |
Finite cell line |
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| Publications | PubMed=2705456; PMCID=PMC1715639
Mitchell J. Weiss, Kunal Ray, Michael D. Fallon, Michael Peter Whyte, Kenton N. Fedde, Mary Ann Lafferty, Richard A. Mulivor, Harry Harris;
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.
Am. J. Hum. Genet. 44:686-694(1989) CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8675582; DOI=10.1210/jcem.81.7.8675582
Kenton N. Fedde, Michelle P. Michell, Paula S. Henthorn, Michael Peter Whyte;
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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| Cell line collections (Providers) |
Coriell; GM08690
|
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| Cell line databases/resources |
CLO; CLO_0010426
|
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| Biological sample resources |
BioSample; SAMN00798140
|
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| Encyclopedic resources |
Wikidata; Q54843248
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 15 |
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