ID   EMe-NH6W523K17
AC   CVCL_A0KN
SY   403-S7-KI-17
DR   Wikidata; Q108820191
RX   PubMed=34182254;
CC   From: Cincinnati Children's Hospital Medical Center Pluripotent Stem Cell Facility; Cincinnati; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:11079; SLC9A6; Simple_corrected; p.Trp523Ter (c.1569G>A); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=34182254).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C181001; Mental retardation, X-linked syndromic, Christianson type
DI   ORDO; Orphanet_85278; Christianson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A0KL ! EMe-NH6W523XS7
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34182254; DOI=10.1016/j.scr.2021.102435; PMCID=PMC8375322;
RA   Ma L., Schmidt M., Morrow E.M.;
RT   "Human iPSC lines from a Christianson syndrome patient with NHE6 W523X
RT   mutation, a biologically-related control, and CRISPR/Cas9
RT   gene-corrected isogenic controls.";
RL   Stem Cell Res. 54:102435-102435(2021).
//