ID   GM28610
AC   CVCL_C7P2
DR   Coriell; GM28610
DR   Wikidata; Q117704443
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:23794; PACS2; Simple; p.Glu209Lys (c.625G>A); ClinVar=VCV000495141; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28610).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198576; Developmental and epileptic encephalopathy 66
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C7P6 ! GM28627
SX   Female
AG   7M
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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