GM24587
Fibroblast from Skin, Skin
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Skin
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Country of Origin
|
USA
|
Family Member
|
3
|
Family History
|
N
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY.arr[hg19](1-22)x2,(XY)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.33 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically unaffected; FISH study results are normal; lymphoblast is GM23713; father of affected child (GM24585-fibro/GM23711-lymph) with de novo microdeletion at 2q22.3-q23.1; unaffected mother of affected child is GM24586(fibro)/GM23712(lymph). |
Cumulative PDL at Freeze |
5.33 |
Passage Frozen |
2 |
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 |
- |
|
|