ID   SDQLCHi059-A
AC   CVCL_C9JJ
DR   BioSamples; SAMEA115076569
DR   hPSCreg; SDQLCHi059-A
DR   Wikidata; Q123033468
RX   PubMed=38493608;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; HGNC:7216; MPI; Simple; p.Pro126_His128dupProGlnHis (c.376_384dupCCGCAGCAC); Zygosity=Heterozygous (PubMed=38493608).
CC   Sequence variation: Mutation; HGNC; HGNC:7216; MPI; Simple; p.Ile398Thr (c.1193T>C); ClinVar=VCV000860729; Zygosity=Heterozygous (PubMed=38493608).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206519; Congenital disorder of glycosylation type Ib
DI   ORDO; Orphanet_79319; MPI-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 5
//
RX   PubMed=38493608; DOI=10.1016/j.scr.2024.103381;
RA   Wang B., Yang L., Gao M., Zhang H.-Y., Liu Y., Gai Z.-T.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (SDQLCHi059-A) from a patient with congenital disorder of
RT   glycosylation carrying heterozygous mutation in MPI gene.";
RL   Stem Cell Res. 77:103381-103381(2024).
//