ID   BIONi010-C-10
AC   CVCL_RM84
SY   HNF1AP291fsinsC +/- 54-5
DR   BioSamples; SAMEA104619380
DR   EBiSC; BIONi010-C-10
DR   ECACC; 66541074
DR   hPSCreg; BIONi010-C-10
DR   Wikidata; Q54796752
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:11621; HNF1A; Simple_edited; p.Gly292Argfs*25 (c.872dupC) (p.Pro291fs); ClinVar=VCV000014927; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (EBiSC=BIONi010-C-10).
CC   Discontinued: ECACC; 66541074; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129742; Hepatocyte nuclear factor 1-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: 19-12-24; Version: 12
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