GM27267
LCL from B-Lymphocyte
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
FOXG1
PIGI Consented Sample |
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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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LCL from B-Lymphocyte
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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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British
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Country of Origin
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SCOTLAND
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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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 |
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| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.561C>G (p.Asn187Lys) |
| Remarks |
Clinically affected; epilepsy; experiences clusters and frequent extensor spasms; movement disorder; profound physical and learning disabilities; cerebral visual impairment; partial agenesis of the corpus callosum; hypersialorrhea; intermittent constipation; p.Asn187Lys variant found in FOXG1 gene; MRI found prominent ventricles, reduced white matter, and hypoplastic corpus callosum; EEG found multifocal epileptiform activity, posterior temporal predilection, right most and left centroparietal and temporal regions; assistive devices include wheelchair, braces, and orthotics; physical therapy, occupational therapy, and speech language therapy; medications include sodium valproate, nitrazepam, lamotrigine (currently reducing dose), levetiracetam, and topiramate; tried ketogenic diet. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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