ID   BIONi010-C-12
AC   CVCL_RM86
SY   HNF4ApR309C -/- 2-4
DR   BioSamples; SAMEA104619383
DR   EBiSC; BIONi010-C-12
DR   ECACC; 66541076
DR   hPSCreg; BIONi010-C-12
DR   Wikidata; Q54796756
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; 5024; HNF4A; Simple_edited; p.Arg331Cys (c.991C>T) (R309C); ClinVar=VCV000036364; Zygosity=Homozygous; Note=By CRISPR/Cas9 (EBiSC=BIONi010-C-12).
CC   Discontinued: ECACC; 66541076; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129744; Hepatocyte nuclear factor 4-alpha associated monogenic diabetes
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1E68 ! BIONi010-C
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
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