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Cellosaurus Tyr1 (CVCL_D3BH)

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Cell line name Tyr1
Accession CVCL_D3BH
Resource Identification Initiative To cite this cell line use: Tyr1 (RRID:CVCL_D3BH)
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.Met1Val (c.1A>G); ClinVar=VCV000003807; Zygosity=Heterozygous (Boston University).
  • Mutation; HGNC; HGNC:12442; TYR; Simple; p.Gly47Asp (c.140G>A); ClinVar=VCV000003794; 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 4Y
Category Induced pluripotent stem cell
Web pages Provider; CReM; 678; https://stemcellbank.bu.edu/Catalog/Item/Details/678
Cross-references
Encyclopedic resources Wikidata; Q127384415
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number4