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Cellosaurus HT patient 1 line 2 (CVCL_WV78)

[Text version]
Cell line name HT patient 1 line 2
Synonyms HT line 2
Accession CVCL_WV78
Resource Identification Initiative To cite this cell line use: HT patient 1 line 2 (RRID:CVCL_WV78)
Comments Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM00286, the patient description and its mutation description are identical (up tp the point of using the same obsolete cDNA position information).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3579; FAH; Simple; p.Val166Gly (c.497T>G) (553T>G); ClinVar=VCV000558415; Zygosity=Heterozygous (from parent cell line).
Disease Tyrosinemia type I (NCIt: C98641)
Tyrosinemia type 1 (ORDO: Orphanet_882)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L937 (GM00286)
Sex of cell Male
Age at sampling 2M
Category Induced pluripotent stem cell
Publications

PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734
Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E., Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L., Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.
J. Clin. Invest. 120:3127-3136(2010)

Cross-references
Encyclopedic resources Wikidata; Q94304154
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10