GM24315
Fibroblast from Skin, Skin
Description:
SMITH-MAGENIS SYNDROME; SMS
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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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More than one race
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Ethnicity
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Hispanic/Latino
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Ethnicity
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CUBAN/URUGUANYAN
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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX,del(17)(p11.2p11.2).arr[hg19] 14q13.2(35395019-35783470)x3,17p12p11.2(15650617-18722823)x1,22q11.21(18793934-19006984)x3
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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 |
6.4 |
| 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 age 2 years; diagnosed at age 5; dysmorphic facial features; brachycephaly; mid-face hypoplasia; dental abnormalities; brachydactyly; pes planus; foot anomaly (bilateral); hypopigmentation; aplastic pituitary; defective vision; weakness; hypotonia; ataxia; decreased pain sensitivity; hoarse voice; asthma; hypothyroidism; frequent pneumonia as a toddler; fine motor delay; gross motor delay; speech delay; learning disability; intellectual disability; ADHD; self-injurious behavior; see GM24288 (Lymph); unaffected mother is GM24290 (Lymph); unaffected father is GM24289 (Lymph). |
| Cumulative PDL at Freeze |
6.4 |
| Passage Frozen |
3 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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