GM12123
Fibroblast from Muscle, Unspecified
Description:
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA
AAAS GENE; AAAS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Muscle
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Muscle, Unspecified
|
|
Ethnicity
|
HISPANIC
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
AAAS |
| Chromosomal Location |
12q13 |
| Allelic Variant 1 |
; ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
| Identified Mutation |
IVS14+1>C |
| |
| Gene |
AAAS |
| Chromosomal Location |
12q13 |
| Allelic Variant 2 |
; ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
| Identified Mutation |
IVS14+1>C |
| Remarks |
Muscle biopsy fibroblast culture; bilateral adrenal gland atrophy; esophageal achalasia; deficient tear production; mental retardation; expired at age 25; an affected sister died at age 3; product of consanguineous marriage; donor subject has a splice-site mutation in the donor site of intron 14 of the AAAS (ALADIN) gene [IVS14+1>C]; there were two different aberrantly spliced AAAS transcripts, the predicted protein products of which lacked the C-terminal, NPC-targeting domain |
| Cronshaw JM, Matunis MJ, The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A100(10):5823-7 2003 |
| PubMed ID: 12730363 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|