ID   GM27300
AC   CVCL_WP04
DR   Coriell; GM27300
DR   Wikidata; Q93933158
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:13830; CNTNAP2; Simple; p.Ser269Asn (c.806G>A); ClinVar=VCV000373714; Zygosity=Heterozygous (from autologous cell line GM27325).
CC   Sequence variation: Mutation; HGNC; HGNC:3791; FOLR1; Simple; c.493+2T>C (IVS4+2T>C); ClinVar=VCV000095750; Zygosity=Heterozygous (from autologous cell line GM27325).
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly224Ser (c.670G>A); ClinVar=VCV000167092; Zygosity=Heterozygous (Coriell=GM27300).
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Pro8Thr (c.22C>A); ClinVar=VCV000205598; Zygosity=Heterozygous (from autologous cell line GM27325).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176903; Rett syndrome, congenital variant
DI   ORDO; Orphanet_3095; Atypical Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YN13 ! GM27325
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 12
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