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Cellosaurus Tyr2 (CVCL_D3BI)

[Text version]
Cell line name Tyr2
Accession CVCL_D3BI
Resource Identification Initiative To cite this cell line use: Tyr2 (RRID:CVCL_D3BI)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12442; TYR; Simple; p.Gly47Asp (c.140G>A); ClinVar=VCV000003794; Zygosity=Homozygous (Boston University).
Disease Oculocutaneous albinism type 1A (NCIt: C168731)
Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling 11Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/679
Cross-references
Encyclopedic resources Wikidata; Q127384416
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3