ID   KMUGMCi004-A
AC   CVCL_C1LN
SY   KMUGMCi004APC; KN615
DR   BioSamples; SAMEA110131367
DR   hPSCreg; KMUGMCi004-A
DR   Wikidata; Q114311825
RX   PubMed=35868288;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:583; APC; Simple; p.Gly611Valfs*19 (c.1832delG); Zygosity=Heterozygous (PubMed=35868288).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35868288; DOI=10.1016/j.scr.2022.102867;
RA   Ura, Hiroki
RA   Togi, Sumihito
RA   Hatanaka, Hisayo
RA   Niida, Yo
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG
RT   mutation in the APC gene leading familial adenomatous polyposis
RT   (FAP).";
RL   Stem Cell Res. 63:102867-102867(2022).
//