GM27192
Fibroblast from Skin, Thigh
Description:
MENTAL RETARDATION, X-LINKED 102; MRX102
DEAD/H BOX 3, X-LINKED; DDX3X
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Thigh
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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, Thigh
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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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Country of Origin
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USA
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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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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 |
6.56 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
DDX3X |
| Chromosomal Location |
Xp11.4 |
| Allelic Variant 1 |
p.Lys208SerfsX13; Mental Retardation X-Linked 102; MRX102 |
| Identified Mutation |
c.623delA (p.K208fsX13) |
| Remarks |
Clinically affected; developmental delay; food intolerance; short stature; speech delay; learning disability; exon sequencing showed patient is heterozygous for the de novo c.623delA (p.K208SfsX13) pathogenic variant in the DDX3X gene; chromosomal microarray analysis identified a duplication at 12p13.1p12.3 that was maternally inherited; assistive devices: braces, communication/learning device; physical therapy; occupational therapy; speech language therapy. |
| Cumulative PDL at Freeze |
6.56 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| 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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