ID   EDITGENE MAPK7 (p.D200A) Point Mutation in Ishikawa Cell Line
AC   CVCL_F5YI
SY   MAPK7 (p.D200A) Point Mutation in Ishikawa Cell Line
DR   EDITGENE; EDC07573
CC   Population: Japanese.
CC   Characteristics: Growth mode Adherent.
CC   Sequence variation: Mutation; HGNC; HGNC:6880; MAPK7; Simple_edited; p.D200A; Zygosity=Unspecified; Note=By CRISPR/Cas9 (EDITGENE=EDC07573).
CC   Sequence variation: Mutation; HGNC; HGNC:8979; PIK3R1; Simple; p.Leu570Pro (c.1709T>C); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9177; POLE; Simple; p.Pro102Ser (c.304C>T); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9177; POLE; Simple; p.Asn751fs (c.2252delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Glu288fs*3 (c.863delA); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Ser302fs*4 (c.906delC); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Thr319fs*1 (c.950_953delTACT) (p.VL317fs) (V317fs*3); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Asp49His (c.145G>C); ClinVar=VCV000135948; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Met246Val (c.736A>G); ClinVar=VCV000100815; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Endometrium; UBERON=UBERON_0001295.
ST   Source(s): EDITGENE=EDC07573
ST   Amelogenin: X
ST   CSF1PO: 12,13
ST   D2S1338: 19,21
ST   D3S1358: 16
ST   D5S818: 10,11
ST   FGA: 21,23
ST   TH01: 9,10
ST   TPOX: 8
DI   NCIt; C40145; Type I endometrial adenocarcinoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2529 ! Ishikawa
SX   Female
AG   39Y
CA   Cancer cell line
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
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