ID   BRCi025-A
AC   CVCL_D6S2
SY   HiPS-RTT_CUH02
DR   BioSamples; SAMEA115410986
DR   hPSCreg; BRCi025-A
RX   PubMed=38703668;
CC   From: RIKEN BioResource Research Center; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Arg255Ter (c.763C>T) (p.Arg267Ter, c.799C>T); ClinVar=VCV000011829; Zygosity=Heterozygous (PubMed=38703668).
CC   Caution: Mutation indicated as p.Arg129Ter (c.428C>T) in paper (PubMed=38703668).
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   15Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38703668; DOI=10.1016/j.scr.2024.103432;
RA   Mori M., Yoshii S., Noguchi M., Takagi D., Shimizu T., Ito H.,
RA   Matsuo-Takasaki M., Nakamura Y., Takahashi S., Hamada H., Ohnuma K.,
RA   Shiohama T., Hayashi Y.;
RT   "Generation of human induced pluripotent stem cell lines derived from
RT   four Rett syndrome patients with MECP2 mutations.";
RL   Stem Cell Res. 77:103432-103432(2024).
//