Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
FOXG1
PIGI Consented Sample |
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Cell Type
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Fibroblast
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|
Tissue Type
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Skin
|
|
Transformant
|
Untransformed
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|
Race
|
White
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|
Ethnicity
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Not Hispanic/Latino
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Country of Origin
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FRANCE
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|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
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|
Confirmation
|
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 |
6.76 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.975_975insA |
| Remarks |
Clinically affected; diagnosed at age 2 and symptom onset at 4 months; cannot sit or walk; hypotonia; heterozygous mutation in exon 1 in FOXG1 gene found c.975_975insA/- found through allele-specific quantitative PCR; assistive devices include a wheelchair, orthotics, and physical therapy; medications include xenazine and artane; same donor as GM27335 (lymphocyte) and GM28578 (iPSC). |
| Cumulative PDL at Freeze |
6.76 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| 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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