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Cellosaurus Tyr3 (CVCL_D3BJ)

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Cell line name Tyr3
Accession CVCL_D3BJ
Resource Identification Initiative To cite this cell line use: Tyr3 (RRID:CVCL_D3BJ)
Comments From: Center for Regenerative 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=Heterozygous (Boston University).
  • Mutation; HGNC; HGNC:12442; TYR; Simple; p.Thr373Lys (c.1118C>A); ClinVar=VCV000003774; Zygosity=Heterozygous (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 Provider; CReM; 680; https://stemcellbank.bu.edu/Catalog/Item/Details/680
Cross-references
Encyclopedic resources Wikidata; Q127384417
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number4