GM27192
Fibroblast from Skin, Thigh
Description:
MENTAL RETARDATION, X-LINKED 102; MRX102
DEAD/H BOX 3, X-LINKED; DDX3X
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Thigh
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.56 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| 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 |
- |
|