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Cellosaurus GM11091 (CVCL_U946)

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Cell line name GM11091
Accession CVCL_U946
Resource Identification Initiative To cite this cell line use: GM11091 (RRID:CVCL_U946)
Comments 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 (from child cell line TRNDi031-A).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A8PE (TRNDi031-A)
Originate from same individual CVCL_U945 ! GM11033
Sex of cell Female
Age at sampling 17Y
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=34198154; DOI=10.1016/j.scr.2021.102447; PMCID=PMC8300001
Brianna M. Brooks, Manisha Pradhan, Yu-Shan Cheng, Kirill Gorshkov, Atena Farkhondeh, Catherine Z. Chen, Jeanette K. Beers, Cheng-Yu Liu, Karsten Baumgartel, Steven Rodems, Wei Zheng;
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; GM11091
Cell line databases/resources CLO; CLO_0023032
Encyclopedic resources Wikidata; Q54844855
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13