GM26038
Fibroblast from Skin, Buttock-thigh
Description:
PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Buttock-thigh
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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, Buttock-thigh
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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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Spanish; German; Irish; Italian
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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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ISCN
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46,XY[23].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 |
3.97 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
TCF4 |
| Chromosomal Location |
18q21.2 |
| Allelic Variant 1 |
Substitution; Pitt-Hopkins Syndrome |
| Identified Mutation |
ARG174TER; c.520C>T; nonsense mutation in TCF4 gene (c.520C>T, p.Arg174X) |
| Remarks |
Clinically affected; symptom onset at birth; diagnosed at 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26037 (lymphoblast) and GM27270 (stem cell). |
| Cumulative PDL at Freeze |
6.6 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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