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Cellosaurus SDQLCHe001-A (CVCL_D0QJ)

[Text version]
Cell line name SDQLCHe001-A
Accession CVCL_D0QJ
Resource Identification Initiative To cite this cell line use: SDQLCHe001-A (RRID:CVCL_D0QJ)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple_edited; p.Gln539Ter (c.1615C>T); ClinVar=VCV000488807; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37245339).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9773 (WA09)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=37245339; DOI=10.1016/j.scr.2023.103120
Li Y., Wan Z.-R., Wang B., Zhang H.-Y., Guan J.-Y., Yang X.-M., Jin X.-H., Ma X., Liu Y.
Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.
Stem Cell Res. 70:103120-103120(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHe001-A
Encyclopedic resources Wikidata; Q123033456
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2