GM24313
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
PIGI Consented Sample |
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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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Ethnicity
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IRISH/SWEDISH/NORWEGIAN
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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 before cell line submission to CCR
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ISCN
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46,XY,del(17)(p11.2p11.2)[20]
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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 |
14.33 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected, symptom onset at birth; diagnosed at age 25; premature birth (6 weeks) with decreased fetal movement in utero; dysmorphic facial features; dental abnormalities, high palate; brachydactyly; pes planus; scoliosis; short stature; ventriculomegaly; defective vision, strabismus, hearing defect, hypotonia and decreased pain sensitivity; history of pneumonia ages 2-9 with hospitalization due to low tone, reduced peristalsis, and aspiration, left lower lobe and middle lobe removed; constipation; gastroesophageal reflux; enuresis; failure to thrive; enlarged heart noted during echocardiogram and x-rays; fine motor delay; gross motor delay; absent or sparse speech; autism spectrum disorder; learning disability-IQ 50; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; disruptive behavior disorder; see GM24286 (Lymph); unaffected mother is GM24287 (Lymph). |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| 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 |
| Substrate |
Gelatin |
| Supplement |
- |
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