| Cell line name |
GM01256 |
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| Synonyms |
GM-1256 |
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| Accession |
CVCL_1V17 |
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| Resource Identification Initiative |
To cite this cell line use: GM01256 (RRID:CVCL_1V17) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; 5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM01256).
- Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM01256).
|
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| Disease |
Scheie syndrome (NCIt: C61265)
Scheie syndrome (ORDO: Orphanet_93474) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Children:
|
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| Sex of cell |
Male |
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| Age at sampling |
12Y |
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| Category |
Finite cell line |
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| 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=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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01256
|
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| Cell line databases/resources |
CLO; CLO_0030933
|
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| Biological sample resources |
BioSample; SAMN00803770
|
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| Encyclopedic resources |
Wikidata; Q54836742
|
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| Entry history |
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| Entry creation | 22-Sep-2015 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 15 |
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