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Cellosaurus MODY1-iPS-A-3 (CVCL_VM20)

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Cell line name MODY1-iPS-A-3
Accession CVCL_VM20
Resource Identification Initiative To cite this cell line use: MODY1-iPS-A-3 (RRID:CVCL_VM20)
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:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (from parent cell line).
Disease Hepatocyte nuclear factor 4-alpha associated monogenic diabetes (NCIt: C129744)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_H970 (GM01122)
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=29990710; DOI=10.1016/j.scr.2018.06.013
Carmel Braverman-Gross, Neta Nudel, Daniel Ronen, Nicola L. Beer, Mark I. McCarty, Nissim Benvenisty;
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs.
Stem Cell Res. 31:16-26(2018)

Cross-references
Encyclopedic resources Wikidata; Q95990466
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number11