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Cellosaurus GM03252 (CVCL_7379)

[Text version]
Cell line name GM03252
Accession CVCL_7379
Resource Identification Initiative To cite this cell line use: GM03252 (RRID:CVCL_7379)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Heterozygous (PubMed=19815695).
Disease Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WU18 (TRNDi009-A)CVCL_WU19 (TRNDi009-B)CVCL_WU20 (TRNDi009-C)
Sex of cell Female
Age at sampling 21FW
Category Finite cell line
Publications

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

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM03252
Cell line databases/resources CLO; CLO_0003530
CLO; CLO_0016698
CLDB; cl1497
Biological sample resources BioSample; SAMN00808326
Encyclopedic resources Wikidata; Q54837975
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number19