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.
CC   Sequence variation: Mutation; HGNC; 30881; ALG13; Simple; p.Asn107Ser (c.320A>G) (N29S); ClinVar=VCV000066086; Zygosity=Heterozygous (hPSCreg).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C142803; Early infantile epileptic encephalopathy 36
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 20-05-21; Version: 8
//