ID   ZJUCHi003-A
AC   CVCL_D4ZF
SY   ZJUCHi003
DR   BioSamples; SAMEA113941585
DR   hPSCreg; ZJUCHi003-A
DR   Wikidata; Q127384773
RX   PubMed=38372889;
CC   From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 6250; KCNH1; Simple; p.Arg357Gln (c.1070G>A); ClinVar=VCV000279981; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38372889).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
ST   Source(s): PubMed=38372889
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D10S1248: 13,14
ST   D12S391: 18,19
ST   D13S317: 8,12
ST   D16S539: 11,13
ST   D18S51: 14,15
ST   D19S433: 15,16
ST   D1S1656: 16,20.3
ST   D21S11: 28,30
ST   D22S1045: 11,15
ST   D2S1338: 19,24
ST   D2S441: 11
ST   D3S1358: 15,16
ST   D5S818: 7,11
ST   D6S1043: 11,17
ST   D7S820: 11
ST   D8S1179: 10,16
ST   FGA: 19,26
ST   Penta D: 8,13
ST   Penta E: 11,12
ST   SE33: 21,31.2
ST   TH01: 7
ST   TPOX: 8
ST   vWA: 14,16
DI   NCIt; C205647; Zimmermann-Laband syndrome 1
DI   ORDO; Orphanet_3473; Zimmermann-Laband syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38372889; DOI=10.1007/s13577-024-01031-8;
RA   Chen D., Su J.-M., Huang X.-Y., Chen H.-Y., Jiang T.-J., Zhi C.-C.,
RA   Zhou Z.-L., Zhang B., Yu L., Jiang X.-L.;
RT   "Establishment and characterization of ZJUCHi003: an induced
RT   pluripotent stem cell line from a patient with
RT   Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G >
RT   A (p.R357Q) variant.";
RL   Hum. Cell 37:832-839(2024).
//