GM25350
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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Sample Source
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Fibroblast from Skin, Skin
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Race
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More than one race
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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African American/Caucasian
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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,XY,del(17)(p11.2).arr[hg19]17p11.2(16928298-18465209)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 |
6.52 |
| 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 age 10 via FISH test; brachycephaly; dental abnormalities; broad nasal bridge; down-turned upper lip; prognathism; synophyrs; pes planus; syndactyly; hoarse voice; decreased pain sensitivity; cardiac abnormalities include ASD and VSD; hypothyroidism diagnosed at 11 months old; GERD diagnosed at 11 months old and 10 years old; constipation; failure to thrive; short stature; overweight/obesity; sleep apnea; otitis media; RSV; intellectual disability (62 IQ/DQ); self-injurious behaviors; attention deficit disorder; unaffected mother is GM25351 and unaffected father is GM25352. |
| Cumulative PDL at Freeze |
6.52 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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