Cellosaurus cell line TRNDi031-A (CVCL

Cross-references
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; 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)
Cell line collections (Providers)	Coriell; GM28559
Cell line databases/resources	hPSCreg; TRNDi031-A
Encyclopedic resources	Wikidata; Q108821400
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	7