GM24312
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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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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Karyotypic analysis and In situ hybridization
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ISCN
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46,XX,del(17)(p11.2p11.2).arr[hg19] 15q11.1q11.2(20422365-22588019)x3,17p11.2(16662913-20256498)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 |
4.48 |
| Passage Frozen |
1 |
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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; diagnosis at age 2.5 years; pregnancy history: polyhydramnios; dysmorphic facial features; brachycephaly; midface hypoplasia; dental abnormalities; strabismus; facial asymmetry; dry skin; pes planus; 2-3 bilateral toe syndactyly; weakness; hypotonia; decreased pain sensitivity; tetralogy of fallot (detected in utero); constipation; fine motor delay; gross motor delay; short stature; absent or sparse speech; intellectual disability; sleep disturbance; repetitive behaviors; multiple ear infections; myringotomy tubes; procedures include surgical repair of tetralogy of fallot; see GM24283 (Lymph); unaffected mother is GM24284 (Lymph). |
| Cumulative PDL at Freeze |
4.48 |
| Passage Frozen |
1 |
| Split Ratio |
1:7 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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