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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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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
p.Gln86Profs*35; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.256dupC (p.Gln86Profs*35) |
| Remarks |
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) and iPSC (GM28574). |
| 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 |
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 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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