GM09826
LCL from B-Lymphocyte
Description:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
ASPARTOACYLASE; ASPA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
ASHKENAZI
|
|
Family Member
|
3
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, Lactate Dehydrogenase, and Malate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
IKBKAP |
| Chromosomal Location |
9q31 |
| Allelic Variant 1 |
603722.0001; FAMILIAL DYSAUTONOMIA |
| Identified Mutation |
c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. |
| |
| Gene |
ASPA |
| Chromosomal Location |
17pter-p13 |
| Allelic Variant 1 |
Y231Y; CANAVAN DISEASE SILENT POLYMORPHISM |
| Identified Mutation |
TYR231TYR; In Ashkenazi Jewish patients with Canavan disease (271900), Kaul et al. (1994) identified a 693C-A nonsense mutation in exon 5 of the ASPA gene (Y231X). They also identified a silent polymorphism, 693C/T. Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity. |
| |
| Gene |
IKBKAP |
| Chromosomal Location |
9q31 |
| Allelic Variant 2 |
603722.0001; FAMILIAL DYSAUTONOMIA |
| Identified Mutation |
c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. |
| Remarks |
Clinically affected; recurrent respiratory infections; pneumonia; blue lips; no nailbed clubbing; gastroesophageal reflux; seizures; syncopal episodes; errors in joint position in both feet; decreased vibratory sense; vomiting following vigorous coughing; postural hypotension; suggestions of poor peripheral circulation; alacrima; no acute corneal problems; optic atrophy; severe myopia; color blindness; stable BUN and creatinine; kyphoscoliosis; affected brothers are GM02341, GM02342; unaffected siblings are GM09827, and GM09828; mother is GM09829; father is GM09830; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T [Tyr231Tyr (Y231Y)] |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|