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Cellosaurus SW48 JAK2 (V617F/+) (CVCL_LD79)

[Text version]
Cell line name SW48 JAK2 (V617F/+)
Synonyms JAK2 (V617F/+) SW48
Accession CVCL_LD79
Resource Identification Initiative To cite this cell line use: SW48 JAK2 (V617F/+) (RRID:CVCL_LD79)
Comments Population: Caucasian.
Characteristics: Heterozygous knockin of a JAK2 activating mutation.
Derived from site: In situ; Colon; UBERON=UBERON_0001155.
Sequence variations
  • Mutation; HGNC; 173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; 583; APC; Simple; p.Arg2714Cys (c.8140C>T); ClinVar=VCV000231255; Zygosity=Unspecified (from parent cell line).
  • Mutation; HGNC; 914; B2M; Simple; p.Ser14fs*29 (c.41_44delCTCT); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 914; B2M; Simple; p.Glu67fs (c.200delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 2514; CTNNB1; Simple; p.Ser33Tyr (c.98C>A); ClinVar=VCV000017577; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 6192; JAK2; Simple_edited; p.Val617Phe (c.1849G>T); ClinVar=VCV000014662; Zygosity=Heterozygous; Note=By method not specified (Horizon_Discovery=HD+103-027).
  • Mutation; HGNC; 11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
Disease Colon adenocarcinoma (NCIt: C4349)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1724 (SW48)
Sex of cell Female
Age at sampling 83Y
Category Cancer cell line
Cross-references
Cell line collections (Providers) Horizon_Discovery; HD+103-027
Cell line databases/resources cancercelllines; CVCL_LD79
Encyclopedic resources Wikidata; Q54971124
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number14