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Cellosaurus Citrullinemia (CVCL_3301)

[Text version]
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

Markers:
AmelogeninX
CSF1PO11,12
D5S8189,12
D7S8208,11
D13S31710,12
D16S53911,12
TH017,9.3
TPOX8,11
vWA17,20

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Publications

PubMed=16591537; DOI=10.1073/pnas.57.3.829
Tedesco T.A., Mellman W.J.
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
Stulberg C.S., Coriell L.L., Kniazeff A.J., Shannon J.E.
The animal cell culture collection.
In Vitro 5:1-16(1970)

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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
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) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=7174798; DOI=10.1172/JCI110736
Su T.-S., Bock H.-G.O., Beaudet A.L., O'Brien W.E.
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 creation04-Apr-2012
Last entry update05-Oct-2023
Version number17