GM00636
Amniotic fluid-derived cell line from Amniotic fluid
Description:
FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
|
Biopsy Source
|
Amniotic fluid
|
|
Cell Type
|
Amniotic fluid-derived cell line
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Amniotic fluid-derived cell line from Amniotic fluid
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| alpha-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.22 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
; FABRY DISEASE |
| Identified Mutation |
1187delAAG |
| Remarks |
46,XY; Alpha-galactosidase deficient; classic phenotype; donor subject is hemizygous for a 3 bp out of frame deletion at nucleotide 1187 in exon 7 of the GLA gene [1187delAAG] |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Amniotic Fluid Culture Medium |
| Serum |
none Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|