ID   SMCPGi001-A
AC   CVCL_B3SK
SY   SMCPGHi-HNRNPH2
DR   Wikidata; Q110433241
RX   PubMed=34763229;
CC   From: The Seven Medical Center of PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:5042; HNRNPH2; Simple; p.Arg206Trp (c.616C>T); ClinVar=VCV000225760; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34763229).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C183311; Intellectual developmental disorder, X-linked, syndromic, Bain type
DI   ORDO; Orphanet_777; X-linked non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34763229; DOI=10.1016/j.scr.2021.102571;
RA   Ma X.-W., Zhu L.-N., Chen W.-Y., Sheng M., Peng F.-J., Liang M.,
RA   Zhao Y.-X., Wang Y.-X., Feng Z.-C.;
RT   "Generation of an iPSC line (SMCPGi001-A) from a patient with Bain
RT   type X-linked mental retardation syndrome carrying HNRNPH2 gene
RT   mutation.";
RL   Stem Cell Res. 57:102571-102571(2021).
//