Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi037-A (CVCL_A4XH)

[Text version]
Cell line name SDQLCHi037-A
Accession CVCL_A4XH
Resource Identification Initiative To cite this cell line use: SDQLCHi037-A (RRID:CVCL_A4XH)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple; p.Gln539Ter (c.1615C>T); ClinVar=VCV000488807; Zygosity=Heterozygous (PubMed=33465531).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

PubMed=33465531; DOI=10.1016/j.scr.2021.102162
Wang B., Yang L., Li Y., Gao M., Zhang H.-Y., Yang X.-M., Guan J.-Y., Liu Y., Gai Z.-T.
Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene.
Stem Cell Res. 51:102162-102162(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi037-A
Encyclopedic resources Wikidata; Q107116891
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4