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Cellosaurus TRNDi031-A (CVCL_A8PE)

[Text version]
Cell line name TRNDi031-A
Synonyms NCATS-CL7739; HT824A; GM28559; GM28559*B
Accession CVCL_A8PE
Resource Identification Initiative To cite this cell line use: TRNDi031-A (RRID:CVCL_A8PE)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple; p.Cys312Ter (c.936T>A); ClinVar=VCV001358138; Zygosity=Heterozygous (PubMed=34198154).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U946 (GM11091)
Sex of cell Female
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=34198154; DOI=10.1016/j.scr.2021.102447; PMCID=PMC8300001
Brooks B.M., Pradhan M., Cheng Y.-S., Gorshkov K., Farkhondeh A., Chen C.Z., Beers J.K., Liu C.-Y., Baumgartel K., Rodems S., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p C312X (c. 936 T > A) mutation in JAGGED-1.
Stem Cell Res. 54:102447-102447(2021)

Cross-references
Cell line collections (Providers) Coriell; GM28559
Cell line databases/resources hPSCreg; TRNDi031-A
Encyclopedic resources Wikidata; Q108821400
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number6