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Cellosaurus CN patient 1 line 1 (CVCL_WV70)

[Text version]
Cell line name CN patient 1 line 1
Accession CVCL_WV70
Resource Identification Initiative To cite this cell line use: CN patient 1 line 1 (RRID:CVCL_WV70)
Comments Population: Caucasian; Italian.
Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM09551, the patient description and its mutation description are identical.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous (PubMed=20739751).
Disease Crigler-Najjar syndrome (NCIt: C84656)
Crigler-Najjar syndrome (ORDO: Orphanet_205)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AA80 (GM09551)
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; Q93455831
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number11