ID   KOL02SB2CC
AC   CVCL_B7NH
SY   SB2
DR   Wikidata; Q112929963
RX   PubMed=27916472;
RX   PubMed=34999422;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:5293; HTR2A; Simple; p.Ser34Ser (c.102T>C) (T102C) (rs6313); ClinVar=VCV000515935; Zygosity=Homozygous (PubMed=27916472; PubMed=34999422).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C73511; Bruxism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=27916472; DOI=10.1016/j.jpor.2016.11.003;
RA   Hoashi Y., Okamoto S., Abe Y., Matsumoto T., Tanaka J., Yoshida Y.,
RA   Imaizumi K., Mishima K., Akamatsu W., Okano H., Baba K.;
RT   "Generation of neural cells using iPSCs from sleep bruxism patients
RT   with 5-HT2A polymorphism.";
RL   J. Prosthodont. Res. 61:242-250(2017).
//
RX   PubMed=34999422; DOI=10.1016/j.scr.2022.102658;
RA   Sarkar A.K., Nakamura S., Nakai K., Sato T., Shiga T., Abe Y.,
RA   Hoashi Y., Inoue T., Akamatsu W., Baba K.;
RT   "Increased excitability of human iPSC-derived neurons in HTR2A
RT   variant-related sleep bruxism.";
RL   Stem Cell Res. 59:102658-102658(2022).
//