GM28022
Fibroblast from Skin, Arm
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Biopsy Source
|
Arm
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Arm
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Dutch
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.68 |
Passage Frozen |
3 |
|
Gene |
SURF1 |
Chromosomal Location |
9q34.2 |
Allelic Variant 1 |
185620.0003; LEIGH SYNDROME |
Identified Mutation |
c.312_321del10insAT (p.Leu105*) |
Remarks |
Unaffected carrier; variant segregation analysis by whole exome sequencing revealed that this mother has a mutation in the SURF1 gene: c.312_321del10insAT (p.L105X); non-consanguineous; has three affected children in family 3515: GM28019 (daughter), GM28020 (son), and GM28021 (son). |
Cumulative PDL at Freeze |
6.68 |
Passage Frozen |
3 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|