Cellosaurus cell line CN patient 1 line 1 (CVCL

Cellosaurus CN patient 1 line 1 (CVCL_WV70)

Cross-references
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 S. Tamir Rashid, Sebastien Corbineau, Nicholas R.F. Hannan, Stefan J. Marciniak, Elena Miranda, Graeme Alexander, Isabel Huang-Doran, Julian L. Griffin, Lars Ahrlund-Richter, Jeremy Skepper, Robert Kenneth Semple ...Show all 14 authors... , Anne Weber, David Arthur Lomas, Ludovic Vallier; Show fewer authors Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. J. Clin. Invest. 120:3127-3136(2010)
Encyclopedic resources	Wikidata; Q93455831
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	11