ID   WMUi017-A
AC   CVCL_A4XX
SY   X-RSY-UiPSC
DR   hPSCreg; WMUi017-A
DR   Wikidata; Q107117478
RX   PubMed=33477035;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9330; PQBP1; Simple; p.Pro609Ala (c.1825C>G); Zygosity=Hemizygous (PubMed=33477035).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C165533; Renpenning syndrome
DI   ORDO; Orphanet_3242; Renpenning syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33477035; DOI=10.1016/j.scr.2021.102159;
RA   Guo X.-L., Zhang X.-F., Wang L.-L., He L.-Y., Ding Y.-J., Chen H.-H.,
RA   Wang D.-X., Rong X., Shen X., Lin J., Chu M.-P.;
RT   "Generation of an urine-derived induced pluripotent stem cell line
RT   WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with
RT   the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G).";
RL   Stem Cell Res. 51:102159-102159(2021).
//