GM26197
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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European
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Country of Origin
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USA
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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 |
p.GLN73TER (Q73X); RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.217C>T (Q73X) |
| Remarks |
Clinically affected; onset of symptoms at birth; diagnosed at 9 months old; microcephaly; global developmental delay at 4 months old; uncontrolled movements; hypertonia and hypotonia; sequencing revealed donor is heterozygous for a novel disease-causing mutation in the FOXG1 gene: p.Gln73Stop(Q73X,CAG>TAG):c.217C>T in exon 1; EEG results revealed potential for seizures; bilateral strabismus surgery; assistive devices: wheelchair, orthotics; management: physical therapy, occupational therapy, speech language therapy; medications: Keppra, Lamictal, Onfi; unaffected mother is GM26198. |
| 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 |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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