| Cell line name |
GM03770 |
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| Accession |
CVCL_U395 |
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| Resource Identification Initiative |
To cite this cell line use: GM03770 (RRID:CVCL_U395) |
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| Comments |
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM03770).
- Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM03770).
|
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| Disease |
Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
15Y |
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| Category |
Transformed cell line |
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| Publications | CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors
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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM03770
|
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| Cell line databases/resources |
CLO; CLO_0015504
|
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| Biological sample resources |
BioSample; SAMN00808523
|
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| Encyclopedic resources |
Wikidata; Q54838225
|
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| Entry history |
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| Entry creation | 03-Feb-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 19 |
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