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Cellosaurus GM08690 (CVCL_W036)

[Text version]
Cell line name GM08690
Synonyms GM 8690; GM8690
Accession CVCL_W036
Resource Identification Initiative To cite this cell line use: GM08690 (RRID:CVCL_W036)
Comments Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Unspecified (PubMed=8675582).
Disease Hypophosphatasia (NCIt: C26798)
Hypophosphatasia (ORDO: Orphanet_436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W033 ! GM08373
CVCL_W034 ! GM08435
Sex of cell Female
Age at sampling 1Y7M
Category Finite cell line
Publications

PubMed=2705456; PMCID=PMC1715639
Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N., Lafferty M.A., Mulivor R.A., Harris H.
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
Mulivor R.A., Suchy S.F.
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
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)

Cross-references
Cell line collections (Providers) Coriell; GM08690
Cell line databases/resources CLO; CLO_0010426
Biological sample resources BioSample; SAMN00798140
Encyclopedic resources Wikidata; Q54843248
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number14