ID   SDQLCHi066-A
AC   CVCL_D4ZP
DR   BioSamples; SAMEA115174533
DR   hPSCreg; SDQLCHi066-A
DR   Wikidata; Q127384269
RX   PubMed=38492469;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Gly247Ser (c.739G>A) (p.Gly216Ser, c.646G>A); ClinVar=VCV000948892; Zygosity=Heterozygous (PubMed=38492469).
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Asp491His (c.1471G>C); Zygosity=Heterozygous (PubMed=38492469).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C157158; Tyrosine hydroxylase deficiency
DI   ORDO; Orphanet_101150; Autosomal recessive dopa-responsive dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=38492469; DOI=10.1016/j.scr.2024.103392;
RA   Zhang X., Li Z.-L., Liu Y., Xin H.-M., Gai Z.-T.;
RT   "Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived
RT   from Segawa syndrome patients harboring heterozygous mutations in the
RT   TH gene (p.G247S and p.D491H).";
RL   Stem Cell Res. 77:103392-103392(2024).
//