ID   GM01571
AC   CVCL_W031
SY   GM-1571; GM 1571; GM1571
DR   CLO; CLO_0031454
DR   BioSample; SAMN00806925
DR   Coriell; GM01571
DR   Wikidata; Q54836918
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1409720;
RX   PubMed=2705456;
RX   PubMed=8675582;
CC   Population: African American.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20FW
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246;
RA   Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P.;
RT   "Different missense mutations at the tissue-nonspecific alkaline
RT   phosphatase gene locus in autosomal recessively inherited forms of
RT   mild and severe hypophosphatasia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992).
//
RX   PubMed=2705456; PMCID=PMC1715639;
RA   Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N.,
RA   Lafferty M.A., Mulivor R.A., Harris H.;
RT   "Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and
RT   enzymatic activity in cultured skin fibroblasts from 14 unrelated
RT   patients with severe hypophosphatasia.";
RL   Am. J. Hum. Genet. 44:686-694(1989).
//
RX   PubMed=8675582; DOI=10.1210/jcem.81.7.8675582;
RA   Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P.;
RT   "Aberrant properties of alkaline phosphatase in patient fibroblasts
RT   correlate with clinical expressivity in severe forms of
RT   hypophosphatasia.";
RL   J. Clin. Endocrinol. Metab. 81:2587-2594(1996).
//