ID   SW48 PIK3CA (E545K/+)
AC   CVCL_LD81
SY   PIK3CA (E545K/+) SW48
DR   Horizon_Discovery; HD+103-001
DR   Wikidata; Q54971147
CC   Characteristics: Heterozygous knockin of a PIK3CA helix domain activating mutation.
CC   Sequence variation: Mutation; HGNC; 173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Arg2714Cys (c.8140C>T); ClinVar=VCV000231255; Zygosity=Unspecified (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 914; B2M; Simple; p.Ser14fs*29 (c.41_44delCTCT); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 914; B2M; Simple; p.Glu67fs (c.200delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2514; CTNNB1; Simple; p.Ser33Tyr (c.98C>A); ClinVar=VCV000017577; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 8975; PIK3CA; Simple_edited; p.Glu545Lys (c.1633G>A); ClinVar=VCV000013655; Zygosity=Heterozygous; Note=By method not specified (Horizon Discovery).
CC   Sequence variation: Mutation; HGNC; 11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (from parent cell line).
CC   Derived from sampling site: Colon.
DI   NCIt; C4349; Colon adenocarcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_1724 ! SW48
SX   Female
AG   83Y
CA   Cancer cell line
DT   Created: 22-08-17; Last updated: 23-09-21; Version: 10
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