ID   GM03502
AC   CVCL_H192
SY   GM 3502; GM3502
DR   CLO; CLO_0017335
DR   BioSample; SAMN00808432
DR   Coriell; GM03502
DR   Wikidata; Q54838106
RX   CelloPub=CLPUB00447;
RX   PubMed=1409720;
RX   PubMed=2705456;
RX   PubMed=8675582;
CC   Population: Caucasian.
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H191 ! GM03336
SX   Female
AG   20FW
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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   PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246;
RA   Henthorn, Paula S.
RA   Raducha, Michael
RA   Fedde, Kenton N.
RA   Lafferty, Mary Ann
RA   Whyte, Michael Peter
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, Mitchell J.
RA   Ray, Kunal
RA   Fallon, Michael D.
RA   Whyte, Michael Peter
RA   Fedde, Kenton N.
RA   Lafferty, Mary Ann
RA   Mulivor, Richard A.
RA   Harris, Harry
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, Kenton N.
RA   Michell, Michelle P.
RA   Henthorn, Paula S.
RA   Whyte, Michael Peter
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).
//