GM27616
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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White
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Ethnicity
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British
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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 |
8.98 |
| Passage Frozen |
9 |
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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 |
Asn232Ser; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.695A>G (p.N232S) |
| Remarks |
Clinically affected; pregnancy normal, but reduced fetal movements compared to older sibling; birth at full term 8lbs 8oz; feeding problems at birth, with slow weight gain until able to pick up food and self feed at 3 yrs; delay in milestones: smiled at 10m; stood at 18m but left-side neglect; walked at 34m; dystonia from 2yrs (improved with dopamine from 16 years); speech: occasional words from 3 yrs, no fluency until improvement when dopamine given for the dystonia - this led to phrases and ‘almost sentences’; no surgery; seizures: some febrile seizures from 18m: 10 in total, bad spell at 4yrs, last fit at 6 yrs; dystonia; myoclonus; orofacial dyskinesia; distal hand tremor; MRI scans have shown delayed myelination with deficiency of the anterior corpus callosum, cerebellar hypoplasia and frontal underdevelopment; mutation in FOXG1 gene: c.695A>G (p.N232S); sleep problems managed by Clonidine; speech and movement improved with Levodopa; family history: mother had an aneurysmal subarachnoid hemorrhage, paternal grandfather had a subarachnoid hemorrhage; same subject as GM27373 (lymph) and GM27629 (iPSC). |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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