ID   GM00244
AC   CVCL_M920
SY   GM-244; GM 244; GM244; GM17061
DR   CLO; CLO_0014562
DR   CLO; CLO_0025491
DR   Coriell; GM00244
DR   Coriell; GM17061
DR   Wikidata; Q54836112
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1652892;
RX   PubMed=2112341;
RX   PubMed=6220706;
RX   PubMed=6401921;
RX   PubMed=11416159;
RX   PubMed=26621101;
CC   Part of: Human variation panel.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Met318Thr (c.953T>C); ClinVar=VCV000004021; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=11416159
ST   Amelogenin: X
ST   D18S51: 14,16
ST   D21S11: 28,33.2
ST   D8S1179: 13,14
ST   FGA: 24
ST   TH01: 7,9.3
ST   vWA: 19,20
DI   NCIt; C84734; Glycogen storage disease type II
DI   ORDO; Orphanet_365; Glycogen storage disease due to acid maltase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5M
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 20
//
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   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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1652892;
RA   Zhong N., Martiniuk F., Tzall S., Hirschhorn R.;
RT   "Identification of a missense mutation in one allele of a patient with
RT   Pompe disease, and use of endonuclease digestion of PCR-amplified RNA
RT   to demonstrate lack of mRNA expression from the second allele.";
RL   Am. J. Hum. Genet. 49:635-645(1991).
//
RX   PubMed=2112341;
RA   Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.;
RT   "Extensive genetic heterogeneity in patients with acid alpha
RT   glucosidase deficiency as detected by abnormalities of DNA and mRNA.";
RL   Am. J. Hum. Genet. 47:73-78(1990).
//
RX   PubMed=6220706; DOI=10.1016/0006-291x(83)90354-6;
RA   Brown D.H., Brown B.I.;
RT   "Studies of the residual glycogen branching enzyme activity present in
RT   human skin fibroblasts from patients with type IV glycogen storage
RT   disease.";
RL   Biochem. Biophys. Res. Commun. 111:636-643(1983).
//
RX   PubMed=6401921;
RA   Beratis N.G., LaBadie G.U., Hirschhorn K.;
RT   "Genetic heterogeneity in acid alpha-glucosidase deficiency.";
RL   Am. J. Hum. Genet. 35:21-33(1983).
//
RX   PubMed=11416159; DOI=10.1073/pnas.121616198;
RA   Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G.,
RA   Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R.,
RA   Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.;
RT   "Short tandem repeat profiling provides an international reference
RT   standard for human cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001).
//
RX   PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005;
RA   Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U.,
RA   Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R.,
RA   Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.;
RT   "Characterization of 137 genomic DNA reference materials for 28
RT   pharmacogenetic genes: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 18:109-123(2016).
//