| Cell line name |
GM00517 |
|---|
| Synonyms |
GM-517; GM 517 |
|---|
| Accession |
CVCL_0R00 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM00517 (RRID:CVCL_0R00) |
|---|
| Comments |
Population: African American.
Cell type: Fibroblast; CL=CL_0000057. |
|---|
| Disease |
Adenine phosphoribosyltransferase deficiency (NCIt: C121564)
Adenine phosphoribosyltransferase deficiency (ORDO: Orphanet_976) |
|---|
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
|---|
| Sex of cell |
Male |
|---|
| Age at sampling |
64Y |
|---|
| 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=6087472; DOI=10.1007/BF01535631
Stambrook P.J., Dush M.K., Trill J.J., Tischfield J.A.
Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants.
Somat. Cell Mol. Genet. 10:359-367(1984) 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 |
|---|
| Cell line collections (Providers) |
Coriell; GM00517
|
|---|
| Cell line databases/resources |
CLO; CLO_0025938
|
|---|
| Encyclopedic resources |
Wikidata; Q54836283
|
|---|
| Entry history |
|---|
| Entry creation | 08-Jul-2015 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 10 |
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