GM24308
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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ENGLISH/FRENCH/FINNISH/SWEDISH
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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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Clinical summary/Case history
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ISCN
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46,XX,del(17)(p11.2).arr[hg19]17p11.2(17036268-19783974)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 |
6.98 |
| Passage Frozen |
3 |
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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 32; dysmorphic facial features; facial asymmetry; hemangioma; dental abnormalities; brachydactyly; pes planus; scoliosis; spina bifida occulta; dry skin; connective tissue nevi; cerebellar hypoplasia; strabismus; hearing defect; hypotonia; absent reflexes; decreased pain sensitivity; hoarse voice; laryngeomalacia; vascular compression (innominate artery); schwannoma spine tumor; ovarian tumors; constipation; gastroesophageal reflux; bicornuate uterus; elevated blood urea nitrogen; high cholesterol; short stature; failure to thrive; gross motor delay; speech delay; overweight/obese; autism (tested at age 3); autism spectrum disorder; pervasive developmental disorder; intellectual disability- IQ 94/ DQ69; oppositional defiant disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; mood disorder; disruptive behavior disorder; procedures include: bilateral myringotomy tubes; total hysterectomy; open chest 5x for vascular compression; medications include: Prozac, triamterene, glucophage, shark oil, prazosin; see GM23786 (Lymph); unaffected mother is GM24271 (Lymph). |
| Cumulative PDL at Freeze |
12.15 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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