GM27612
Fibroblast from Skin, Skin
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 |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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Race
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Unknown
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Country of Origin
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UNITED KINGDOM
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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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| PDL at Freeze |
8.1 |
| Passage Frozen |
10 |
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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 |
164874.0007; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.460dupG (p.Glu154Glyfs*301); In 2 unrelated patients with the congenital variant of Rett syndrome (613454), Kortum et al. (2011) identified a heterozygous de novo 1-bp duplication (460dupG), resulting in a duplication of guanine after 7 subsequent guanine nucleotides in the FOXG1 gene. The recurrence of this mutation suggested that this guanine stretch is prone to replication errors, thus representing a mutation hotspot. |
| Remarks |
Clinically affected; diagnosed as 47,XXX at CVS for maternal age (40 years); microcephaly suspected at 19/40 US scan; microcephanic although occipitofrontal head circumference (OFC) did grow along centile lines; poor feeding and ‘colic’; admitted for investigation at 3 months; seizures from infancy, severe from 2 years; showed some Rett-like behaviors; seizures remained a problem but improved from 9-10 years; on treatment for seizures, dystonia, poor sleeping and reflux when assessed at 18 years; mutation in FOXG1 gene: c.460dupG (p.E154GfsX301). |
| Passage Frozen |
10 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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