| Cell line name |
Citrullinemia |
| Synonyms |
citrullinemia; GM00063; GM0063; GM-63; GM63 |
| Accession |
CVCL_3301 |
| Secondary accession |
CVCL_U513 |
| Resource Identification Initiative |
To cite this cell line use: Citrullinemia (RRID:CVCL_3301) |
| Comments |
Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
| Disease |
Citrullinemia type I (NCIt: C150601) Citrullinemia type I (ORDO: Orphanet_247525) |
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
| Sex of cell |
Female |
| Age at sampling |
4M |
| Category |
Finite cell line |
| STR profile |
Source(s): ATCC=CCL-76
Markers:| Amelogenin | X |
| CSF1PO | 11,12 |
| D2S1338 | 17,19 |
| D3S1358 | 14,17 |
| D5S818 | 9,12 |
| D7S820 | 8,11 |
| D8S1179 | 15 |
| D13S317 | 10,12 |
| D16S539 | 11,12 |
| D18S51 | 13,14 |
| D19S433 | 14,14.2 |
| D21S11 | 28,30 |
| FGA | 21,23 |
| Penta D | 9,11 |
| Penta E | 5,7 |
| TH01 | 7,9.3 |
| TPOX | 8,11 |
| vWA | 17,20 |
Run an STR similarity search on this cell line |
| Publications | PubMed=16591537; DOI=10.1073/pnas.57.3.829; PMCID=PMC335582 Thomas A. Tedesco, William J. Mellman; Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc. Natl. Acad. Sci. U.S.A. 57:829-834(1967) DOI=10.1007/BF02618370 Cyril S. Stulberg, Lewis Lemon Coriell, Alexis John Kniazeff, John E. Shannon; The animal cell culture collection. In Vitro 5:1-16(1970) DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; 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) CLPUB00387 Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor; The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980) PubMed=7174798; DOI=10.1172/JCI110736; PMCID=PMC370354 Tsung-Sheng Su, Hans-Georg Otto Bock, Arthur L. Beaudet, William E. O'Brien; Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. J. Clin. Invest. 70:1334-1339(1982) |
| Cross-references |
| Cell line collections (Providers) |
ATCC; CCL-76
Coriell; GM00063 - Discontinued
ECACC; 90102532 - Discontinued
|
| Cell line databases/resources |
CLO; CLO_0002480
CLO; CLO_0002481
CLDB; cl783
|
| Biological sample resources |
BioSample; SAMN03471287
|
| Encyclopedic resources |
Wikidata; Q54813422
|
| Entry history |
| Entry creation | 04-Apr-2012 |
| Last entry update | 14-Aug-2025 |
| Version number | 19 |
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