| Cell line name |
GM00568 |
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| Synonyms |
GM-568 |
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| Accession |
CVCL_X446 |
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| Resource Identification Initiative |
To cite this cell line use: GM00568 (RRID:CVCL_X446) |
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| Comments |
Population: Caucasian; Finnish.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
|
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| Disease |
Aspartylglycosaminuria (NCIt: C61273)
Aspartylglucosaminuria (ORDO: Orphanet_93) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
18Y |
|---|
| Category |
Finite cell line |
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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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=1904874; DOI=10.1016/S0021-9258(18)99071-X
Fisher K.J., Aronson N.N. Jr.
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
J. Biol. Chem. 266:12105-12113(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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00568
|
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| Cell line databases/resources |
CLO; CLO_0026022
|
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| Encyclopedic resources |
Wikidata; Q54836311
|
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| Entry history |
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| Entry creation | 05-Sep-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 16 |
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