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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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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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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Italian, Eastern European
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Country of Origin
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BRAZIL
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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 |
11 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; age at diagnosis 15 months; age of symptom onset 3 months; microcephaly; developmental delay; autistic symptoms; epilepsy; a submitted report summarized details of a translocation: t(2;14); the chr 14 breakpoint is located within the FOXG1 regulatory domain; this 14q12 breakpoint truncates the 3'UTR of the non-coding gene c14orf23 20-24 kb 3' to FOXG1 in a region associated with long-range position effect (LRPE) of FOXG1 with symptoms similar to those of point mutations within FOXG1; the chr 2 breakpoint is within 2q36.1, truncating the gene WDFY1 (expressed at low levels in tissue, not highly expressed in brain); EKG results were normal; EEG results were abnormal and showed signs of focal epilepsy; speech language therapy; physical therapy; occupational therapy; medications include keppra, clobazam, trihexyphenidyl, and melatonin; LCL is GM27260; mother is GM27262 (LCL) and father is GM27264 (LCL)/GM27265 (fibro). |
| Cumulative PDL at Freeze |
11 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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