ID   GM27434
AC   CVCL_A2QH
DR   Coriell; GM27434
DR   Wikidata; Q105507171
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM27434).
CC   Sequence variation: Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Leu257Arg (c.770T>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27434).
CC   Sequence variation: Mutation; HGNC; HGNC:8656; PCDH11X; Simple; p.Asp1111Asn (c.3331G>A); Zygosity=Hemizygous (Coriell=GM27434).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176903; Rett syndrome, congenital variant
DI   ORDO; Orphanet_3095; Atypical Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//