ID   GM29122
AC   CVCL_D3AL
DR   Coriell; GM29122
DR   Wikidata; Q127380954
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11111; SMC1A; Simple; p.Ile1185Glyfs*23 (c.3549_3552dupGGCC); ClinVar=VCV000208627; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29122).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202548; Developmental and epileptic encephalopathy 85 with or without midline brain defects
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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