ID   GM04234
AC   CVCL_EJ36
SY   GM4234; GM04234A
DR   CLO; CLO_0019478
DR   Coriell; GM04234
DR   Wikidata; Q54838445
RX   CelloPub=CLPUB00447;
RX   PubMed=1409720;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 438; ALPL; Simple; p.Arg71Cys (c.211C>T) (R54C, 378T); ClinVar=VCV000013663; Zygosity=Heterozygous (PubMed=1409720).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 10
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=1409720; DOI=10.1073/pnas.89.20.9924;
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).
//