Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Race
|
Other
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Bosnian
|
Country of Origin
|
USA
|
Family Member
|
3
|
Family History
|
N
|
Relation to Proband
|
father
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.84 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Unaffected father of affected proband; LCL is GM27980; clinical exome sequencing test results were negative for the pathogenic heterozygous de novo CHAMP1 variant c.542_543delCT (p.Ser181CysfsX5) harbored by affected daughter, GM27963 (fibro) and GM27967 (LCL); though this parent does not have the pathogenic variant, the possibility of germline mosaicism cannot be excluded; positive for the Factor V Leiden variant not detected in the affected daughter. |
Cumulative PDL at Freeze |
5.84 |
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 |
- |
|
|