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Cellosaurus TRNDi029-A (CVCL_A8NS)

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Cell line name TRNDi029-A
Synonyms NCATS-CL4870; HT822A; GM28558; GM28558*B
Accession CVCL_A8NS
Resource Identification Initiative To cite this cell line use: TRNDi029-A (RRID:CVCL_A8NS)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Arg465Arg (c.1395G>T) (chr20:g.10629709C>A); Zygosity=Heterozygous; Note=Splice site mutation (PubMed=34087995).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U944 (GM05759)
Sex of cell Female
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

PubMed=34087995; DOI=10.1016/j.scr.2021.102366; PMCID=PMC9482691
Wei Zhu, Yu-Shan Cheng, Miao Xu, Atena Farkhondeh, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Karsten Baumgartel, Steven Rodems, Wei Zheng;
Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11.
Stem Cell Res. 53:102366-102366(2021)

Cross-references
Cell line collections (Providers) Coriell; GM28558
Cell line databases/resources hPSCreg; TRNDi029-A
Encyclopedic resources Wikidata; Q108821398
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number8