ID   WAe001-A-27
SY   H1_MECP2_KO3; KO3; MAPe002-A-27
DR   hPSCreg; WAe001-A-27
DR   Wikidata; Q98134699
RX   PubMed=31450191;
CC   From: Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research; Singapore; Singapore.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple_edited; p.Pro230fs; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=31450191).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9771 ! WA01
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
RX   PubMed=31450191; DOI=10.1016/j.scr.2019.101533;
RA   Zeng R.-Z., Sidik H., Robinson K.S., Zhong F.L., Reversade B.,
RA   Pouladi M.A.;
RT   "Generation of four H1 hESC sublines carrying a hemizygous
RT   knock-out/mutant MECP2.";
RL   Stem Cell Res. 40:101533-101533(2019).