ID   PEIi001-A
AC   CVCL_YC47
DR   BioSamples; SAMEA114277733
DR   hPSCreg; PEIi001-A
DR   Wikidata; Q98128534
RX   PubMed=31698189;
CC   From: Paul Ehrlich Institute; Langen; Germany.
CC   Sequence variation: Mutation; HGNC; 9330; PQBP1; Simple; p.Arg153Serfs*41 (c.451_452AG[4]) (c.459_462delAGAG); ClinVar=VCV000010980; Zygosity=Hemizygous (PubMed=31698189).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165533; Renpenning syndrome
DI   ORDO; Orphanet_3242; Renpenning syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 30-01-24; Version: 7
//
RX   PubMed=31698189; DOI=10.1016/j.scr.2019.101592;
RA   Fuchs N.V., Schieck M., Neuenkirch M., Tondera C., Schmitz H.,
RA   des Portes V., Germanaud D., Steinemann D., Gohring G., Konig R.;
RT   "Induced pluripotent stem cells (iPSCs) derived from a renpenning
RT   syndrome patient with c.459_462delAGAG mutation in PQBP1
RT   (PEIi001-A).";
RL   Stem Cell Res. 41:101592-101592(2019).
//