ID   PFIZi025-A
AC   CVCL_RG02
SY   B220c16
DR   BioSamples; SAMEA104236756
DR   EBiSC; PFIZi025-A
DR   ECACC; 66540610
DR   hPSCreg; PFIZi025-A
DR   Wikidata; Q54947280
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 6233; KCNC1; Simple; p.Arg320His (c.959G>A); ClinVar=VCV000162519; Zygosity=Heterozygous (hPSCreg=PFIZi025-A).
CC   Discontinued: ECACC; 66540610; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142804; Epilepsy, progressive myoclonic 7
DI   ORDO; Orphanet_435438; Progressive myoclonic epilepsy type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 10
//