ID   GM11477
AC   CVCL_N181
DR   CLO; CLO_0020976
DR   Coriell; GM11477
DR   Wikidata; Q54845106
CC   Population: Puerto Rican.
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Ala1050Glufs*6 (c.3149delC); ClinVar=VCV000183078; Zygosity=Heterozygous (Coriell=GM11477).
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (from autologous cell line GM11410).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_N180 ! GM11410
SX   Male
AG   43Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 16
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