ID   ZJUi005-A
AC   CVCL_ZE47
SY   ZJU-iPS-PMD-PLP1-001
DR   hPSCreg; ZJUi005-A
DR   SKIP; SKIP005797
DR   Wikidata; Q98136564
RX   PubMed=32402715;
CC   From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9086; PLP1; Simple; p.Leu146Pro (c.437T>C); Zygosity=Hemizygous (PubMed=32402715).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32402715; DOI=10.1016/j.scr.2020.101791;
RA   Liu B., Chen L., Sun J., Zhang L., Chen M., Qian Y.-Q., Wang Y.-L.,
RA   Yan K., Hou L.-X., Huang Y.-Z., Zhang D., Xu Y.-M., Yu J.-L.,
RA   Zhang J., Dong M.-Y.;
RT   "Generation of the human induced pluripotent stem cell line
RT   (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD)
RT   carrying a novel hemizygous mutation in PLP1 gene.";
RL   Stem Cell Res. 45:101791-101791(2020).
//