GM27614
Fibroblast from Skin, Skin
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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Biopsy Source
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Skin
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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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Sample Source
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Fibroblast from Skin, Skin
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Race
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Unknown
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Country of Origin
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UNITED KINGDOM
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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 |
6.72 |
| Passage Frozen |
9 |
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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 (p.Gln86Profs*35) |
| Remarks |
Clinically affected; diagnosed at 3 years of age; feeding problems from birth; nil by mouth despite fundoplication at 18 months; fed entirely by PEG; very marked delay: smiled at 6 months, never learned to sit; seizures from 3+ years; effectively deaf (auditory processing disorder) and functionally blind; marked movement disorder; mutation in FOXG1 gene: c.256dupC (p.Q86PfsX35). Same subject as GM27622 - stem cell. |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| 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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