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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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/Jewish/Austrian/Russian
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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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| PDL at Freeze |
6 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
p.W308X; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.924G>A (p.W308X) |
| Remarks |
Clinically affected; age of diagnosis 2 years; age of symptom onset 4 months; microcephaly; strabismus; epilepsy; hypotonia; cortical vision impairment; non-verbal; global developmental delay; cannot sit up without falling; cannot walk or crawl; dystonia; spasticity; muscle weakness; gastrointestinal reflux; failure to thrive; whole exome sequencing found de novo variant in FOXG1 gene c.924G>A (p.W308X); dependent on feeding tube; assistive devices include wheelchair, orthotics, and communication/learning devices; medications include onfi, depakote, fycompa, and CBD oil; surgeries include G-tube and adenoids; lymph (GM27227) and iPSC (GM28576). |
| Hettige NC, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, Jefri M, Soubannier V, Maussion G, Alsuwaidi S, Ni A, Rocha C, Krishnan J, McCarty V, Antonyan L, Schuppert A, Turecki G, Fon EA, Durcan TM, Ernst C, FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells Stem cell reports17:475-488 2021 |
| PubMed ID: 35148845 |
| Cumulative PDL at Freeze |
6 |
| Passage Frozen |
2 |
| Split Ratio |
1:11 |
| 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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