ID   BIHi001-B-3
AC   CVCL_D6L1
SY   1B-THRB-GS-2
DR   hPSCreg; BIHi001-B-3
DR   Wikidata; Q127380335
RX   PubMed=38100912;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11799; THRB; Simple_edited; p.Glu125_Gly126delinsGlySer (c.372_376delinsCGGCA); Zygosity=Homozygous; Note=By CRISPR/Cas9. Abolishes recognition of thyroid hormone response elements and regulation of gene expression (PubMed=38100912).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Fibroblast of foreskin; CL=CL_1001608.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_YN70 ! BIHi001-B
SX   Male
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38100912; DOI=10.1016/j.scr.2023.103275;
RA   Ludwik K.A., Jahn R., Schording A.-K., Moeller L.C., Stachelscheid H.;
RT   "Generation of THRB-GS(E125G_G126S) and THRB-KO human iPSC lines to
RT   study noncanonical thyroid hormone signalling.";
RL   Stem Cell Res. 74:103275-103275(2024).
//