Cellosaurus logo
expasy logo

Cellosaurus GM01571 (CVCL_W031)

[Text version]
Cell line name GM01571
Synonyms GM-1571; GM 1571; GM1571
Accession CVCL_W031
Resource Identification Initiative To cite this cell line use: GM01571 (RRID:CVCL_W031)
Comments Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Hypophosphatasia (NCIt: C26798)
Hypophosphatasia (ORDO: Orphanet_436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20FW
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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=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)

Cross-references
Cell line collections (Providers) Coriell; GM01571
Cell line databases/resources CLO; CLO_0031454
Biological sample resources BioSample; SAMN00806925
Encyclopedic resources Wikidata; Q54836918
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number12