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Cellosaurus BIONi010-C-10 (CVCL_RM84)

[Text version]
Cell line name BIONi010-C-10
Synonyms HNF1AP291fsinsC +/- 54-5
Accession CVCL_RM84
Resource Identification Initiative To cite this cell line use: BIONi010-C-10 (RRID:CVCL_RM84)
Comments From: Bioneer A/S; Horsholm; Denmark.
Population: African.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11621; HNF1A; Simple_edited; p.Gly292Argfs*25 (c.872dupC) (p.Pro291fs); ClinVar=VCV000014927; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (EBiSC=BIONi010-C-10).
Disease Hepatocyte nuclear factor 1-alpha-associated monogenic diabetes (NCIt: C129742)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1E68 (BIONi010-C)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; BIONi010-C-10
ECACC; 66541074 - Discontinued
Cell line databases/resources hPSCreg; BIONi010-C-10
Biological sample resources BioSamples; SAMEA104619380
Encyclopedic resources Wikidata; Q54796752
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number11