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Cellosaurus (CVCL_1S81)

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Comments Population: Caucasian; Acadian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12597; USH1C; Simple; p.Val72Glufs*65 (c.216G>A) (p.Val72Val); ClinVar=VCV000005143; Zygosity=Homozygous; Note=New splice site creation (PubMed=15578223).
Disease Usher syndrome type 1 (NCIt: C126327)
Usher syndrome type 1 (ORDO: Orphanet_231169)
Species of origin Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 19Y
Category Transformed cell line
Publications



mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.
Hum. Genet. 82:171-178(1989)


Carla D. Sturkie, Steve Stice;
ENStem-A adherent human neural progenitors: a new source of primary human neural cells.
(In technical document) Millipore application note AN1241EN00; pp.1-3; Millipore; Billerica; USA (2008)

Cross-references
Encyclopedic resources Wikidata; Q54843766
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number16