GM25367
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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White
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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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See Internal Remark
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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 |
6.21 |
| 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; diagnosed at age 7 years via FISH test; brachycephaly; midface retrusion (hypoplasia); broad nasal bridge; down-turned upper lip; prognathism; synophrys; defective vision; strabismus; hearing defect; decreased pain sensitivity; dental abnormalities; hoarse voice; pes planus; scoliosis; syndactyly; tetralogy of Fallot; constipation; short stature; overweight/obesity; high total cholesterol; self-injurious behavior; unaffected mother is GM25368 and unaffected father is GM25369. |
| Lee YJ, Chang YT, Cho Y, Kowalczyk M, Dragoiescu A, Pacis A, Kailasam S, Lefebvre F, Zhang Q, Gao X, Huang WH, Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models American journal of human genetics112:2338-2362 2025 |
| PubMed ID: 40882620 |
| Cumulative PDL at Freeze |
6.21 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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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