ID   FJMUUHi002-A
AC   CVCL_D0EY
SY   hiPS-RTT
DR   BioSamples; SAMEA113413704
DR   hPSCreg; FJMUUHi002-A
DR   Wikidata; Q123031286
RX   PubMed=38100910;
CC   From: Fujian Medical University Union Hospital; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; Zygosity=Heterozygous (PubMed=38100910).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38100910; DOI=10.1016/j.scr.2023.103268;
RA   Guo Y., Li J.-Q., Xie W.-Y., Huang H.-P., Li J.-J., Lin W.-H.,
RA   Lu Y.-Q.;
RT   "Generation of an integration-free induced pluripotent stem cell line,
RT   FJMUUHi002-A, from a Rett syndrome patient with a heterozygous
RT   mutation p. R133C in MeCP2.";
RL   Stem Cell Res. 74:103268-103268(2024).
//