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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Asian
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Hispanic Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese, French
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Country of Origin
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FRANCE
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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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ISCN
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46,XX[24].arr(1-22)x2,(X,Y)x1
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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 |
7.18 |
| Passage Frozen |
2 |
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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 |
p.Gln86Profs*35; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.256dupC |
| Remark |
Clinically affected; age of diagnosis and age of symptom onset 6 months old; microcephaly; psychomotor retardation; Sanger sequencing found heterozygous variant in FOXG1 gene c.256dup (p.Gln86Profs*35) resulting in a shift of the reading frame; assistive devices include use of wheelchair; lymph (GM27248). |
| Cumulative PDL at Freeze |
7.18 |
| Passage Frozen |
2 |
| Split Ratio |
1:12 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
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