GM25374
Fibroblast from Skin, Skin
Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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White
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Ethnicity
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Not Hispanic/Latino
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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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Karyotypic analysis and Case history
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ISCN
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46,XX,del(17)(p11.2).arr[hg19]17p11.2(16769800-20474086)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 |
6.5 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; diagnosed at 14 months old by geneticist via FISH analysis; feeding problems during infancy; cleft palate; brachycephaly; midface retrusion (hypoplasia); frontal bossing; broad nasal bridge; abnormal ear shape; prognathism; synophrys; hypotonia; decreased pain sensitivity; hoarse voice; dry skin; pes planus; scoliosis; short broad hands; abnormal gait; muscle weakness; decreased tolerance to exercise; constipation; kidney malformation; intellectual disability (75 IQ, 58 DQ); obsessive compulsive disorder; self-injurious behaviors; high total cholesterol; history of frequent ear infections (treated with myringotomy tubes); history of frequent sinus and respiratory infections; swallowing problems; excessive choking and drooling; see lymph (GM25373). |
| Cumulative PDL at Freeze |
6.5 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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