ID   PFIZi023-A
AC   CVCL_VE75
SY   B217c8
DR   BioSamples; SAMEA104236752
DR   EBiSC; PFIZi023-A
DR   ECACC; 66540608
DR   hPSCreg; PFIZi023-A
DR   Wikidata; Q54947278
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4512; ADGRG1; Simple; p.Val316Leufs*8 (c.944_945dupTT); ClinVar=VCV000211096; Zygosity=Heterozygous (hPSCreg=PFIZi023-A).
CC   Sequence variation: Mutation; HGNC; 4512; ADGRG1; Simple; p.Leu503Pro (c.1508T>C) (p.Leu497Pro, c.1490T>C); ClinVar=VCV000158620; Zygosity=Heterozygous (hPSCreg=PFIZi023-A).
CC   Discontinued: ECACC; 66540608; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148367; Bilateral frontoparietal polymicrogyria
DI   ORDO; Orphanet_101070; Bilateral frontoparietal polymicrogyria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 10
//