Description:
MYOPATHY, DISTAL, 5; MPD5
ADENYLOSUCCINATE SYNTHASE 1; ADSS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
Asian
|
|
Subject Type
|
trio
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Indian
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| PDL at Freeze |
6.54 |
| Passage Frozen |
2 |
| |
| Gene |
ADSSL1 |
| Chromosomal Location |
14q32.33 |
| Allelic Variant 1 |
612498.0001; ADENYLOSUCCINATE SYNTHASE 1; ADSS1 |
| Identified Mutation |
c.910G>A (p.Asp304Asn) |
| Remarks |
Unaffected carrier. Mother of two affected children, including GM28573 (fibro). |
| Cumulative PDL at Freeze |
6.54 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
- |
|
|