Cell line name |
GM00415 |
Synonyms |
GM-415; GM 00415 |
Accession |
CVCL_V529 |
Resource Identification Initiative |
To cite this cell line use: GM00415 (RRID:CVCL_V529) |
Comments |
Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
Disease |
Hurler syndrome (NCIt: C61261) Hurler syndrome (ORDO: Orphanet_93473) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Hierarchy |
Children:
|
Sex of cell |
Male |
Age at sampling |
4Y |
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) 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) PubMed=8328452; PMCID=PMC1682364 Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am. J. Hum. Genet. 53:330-338(1993) PubMed=30052969; DOI=10.1093/hmg/ddy259; PMCID=PMC6454448 Swaroop M., Brooks M.J., Gieser L., Swaroop A., Zheng W. Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I. Hum. Mol. Genet. 27:3612-3626(2018) |
Cross-references |
Cell line collections (Providers) |
Coriell; GM00415
|
Cell line databases/resources |
CLO; CLO_0026126
|
Encyclopedic resources |
Wikidata; Q54836208
|
Entry history |
Entry creation | 16-Apr-2014 |
Last entry update | 29-Jun-2023 |
Version number | 11 |
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