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Cellosaurus GM00415 (CVCL_V529)

[Text version]
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:
CVCL_B5TL (HT148A)CVCL_B5TM (HT148D)
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=8328452
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
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 creation16-Apr-2014
Last entry update29-Jun-2023
Version number11