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Cellosaurus GM05759 (CVCL_U944)

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Cell line name GM05759
Accession CVCL_U944
Resource Identification Initiative To cite this cell line use: GM05759 (RRID:CVCL_U944)
Comments 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 Children:
CVCL_A8NS (TRNDi029-A)
Sex of cell Female
Age at sampling 3M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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; GM05759
Cell line databases/resources CLO; CLO_0024658
Encyclopedic resources Wikidata; Q54841934
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13