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Cellosaurus GM00244 (CVCL_M920)

[Text version]
Cell line name GM00244
Synonyms GM-244; GM 244; GM244; GM17061
Accession CVCL_M920
Resource Identification Initiative To cite this cell line use: GM00244 (RRID:CVCL_M920)
Comments Part of: Human variation panel.
Population: Mexican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; p.Met318Thr (c.953T>C); ClinVar=VCV000004021; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
  • Mutation; HGNC; 4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5M
Category Finite cell line
STR profile Source(s): PubMed=11416159

Markers:
AmelogeninX
D8S117913,14
D18S5114,16
D21S1128,33.2
FGA24
TH017,9.3
vWA19,20

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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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=6220706; DOI=10.1016/0006-291x(83)90354-6
Brown D.H., Brown B.I.
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.
Biochem. Biophys. Res. Commun. 111:636-643(1983)

PubMed=6401921
Beratis N.G., LaBadie G.U., Hirschhorn K.
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Am. J. Hum. Genet. 35:21-33(1983)

PubMed=2112341
Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Am. J. Hum. Genet. 47:73-78(1990)

PubMed=1652892
Zhong N., Martiniuk F., Tzall S., Hirschhorn R.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=11416159; DOI=10.1073/pnas.121616198
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

Cross-references
Cell line collections (Providers) Coriell; GM00244
Coriell; GM17061
Cell line databases/resources CLO; CLO_0014562
CLO; CLO_0025491
Encyclopedic resources Wikidata; Q54836112
Entry history
Entry creation05-Nov-2013
Last entry update30-Jan-2024
Version number20