ID   SDQLCHe001-A
AC   CVCL_D0QJ
DR   hPSCreg; SDQLCHe001-A
DR   Wikidata; Q123033456
RX   PubMed=37245339;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple_edited; p.Gln539Ter (c.1615C>T); ClinVar=VCV000488807; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37245339).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C35139; Alagille syndrome
DI   ORDO; Orphanet_52; Alagille syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37245339; DOI=10.1016/j.scr.2023.103120;
RA   Li Y., Wan Z.-R., Wang B., Zhang H.-Y., Guan J.-Y., Yang X.-M.,
RA   Jin X.-H., Ma X., Liu Y.;
RT   "Generation of JAG1 gene c.1615C > T heterozygous mutation human
RT   embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.";
RL   Stem Cell Res. 70:103120-103120(2023).
//