ID   PFIZi022-A
AC   CVCL_RG00
SY   B219c2
DR   BioSamples; SAMEA104236750
DR   EBiSC; PFIZi022-A
DR   ECACC; 66540607
DR   hPSCreg; PFIZi022-A
DR   Wikidata; Q54947277
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 30881; ALG13; Simple; p.Asn107Ser (c.320A>G) (N29S); ClinVar=VCV000066086; Zygosity=Heterozygous (hPSCreg=PFIZi022-A).
CC   Discontinued: ECACC; 66540607; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142803; Developmental and epileptic encephalopathy 36
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
//