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Cellosaurus GM00248 (CVCL_1K46)

[Text version]
Cell line name GM00248
Synonyms GM-248; GM 248
Accession CVCL_1K46
Resource Identification Initiative To cite this cell line use: GM00248 (RRID:CVCL_1K46)
Comments Population: African American.
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.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (Coriell=GM00248).
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)
Hierarchy Children:
CVCL_UL26 (TRNDi007-A)CVCL_UL27 (TRNDi007-B)
Sex of cell Male
Age at sampling 5M
Category Finite cell line
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=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=6418414; DOI=10.1016/0009-8981(83)90179-1
Beratis N.G., Wilbur L., Sklower S.L.
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
Clin. Chim. Acta 134:11-16(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=33375166; DOI=10.3390/cells10010008
Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z., Huang W.-W., Zheng W.
Modeling CNS involvement in Pompe disease using neural stem cells generated from patient-derived induced pluripotent stem cells.
Cells 10:8.1-8.14(2021)

Cross-references
Cell line collections (Providers) Coriell; GM00248
Cell line databases/resources CLO; CLO_0025495
Encyclopedic resources Wikidata; Q54836114
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number15