Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample
FOXG1 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Ukranian, Scottish
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Country of Origin
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SWITZERLAND
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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|
Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Unaffected mother of affected child (GM27241); sequencing of exon 1 of FOXG1 revealed that there was no pathological sequence variant; child has a likely pathogenic de novo heterozygous missense variant in FOXG1, c.688C>T (p.Arg230Cys) hg19 chr14:g.29237173C>T, and a de novo nonsense variant in IQGAP2, C.2857C>T (p.Gln953*). |
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