ID   TSHSUi001-A
AC   CVCL_C9LQ
DR   hPSCreg; TSHSUi001-A
DR   Wikidata; Q123033655
RX   PubMed=37392704;
CC   From: The Second Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11389; STK11; Simple; c.290+1G>A; ClinVar=VCV000428787; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=37392704).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3324; Peutz-Jeghers syndrome
DI   ORDO; Orphanet_2869; Peutz-Jeghers syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37392704; DOI=10.1016/j.scr.2023.103152;
RA   Wang T., Zhu K.-X., Yu W.-H., Peng L., Wang H.-J., Wu Q.;
RT   "Generation of an iPSC line (TSHSUi001-A) from a patient with
RT   Peutz-Jeghers syndrome due to STK11 mutation.";
RL   Stem Cell Res. 71:103152-103152(2023).
//