GM20378
LCL from B-Lymphocyte
Description:
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| tripeptidyl-peptidase I |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.4.14.9 |
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| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
IVS5-1G>A |
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| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
G296-R297ins6[IVS7-18]; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
4188A>G |
| Remarks |
Clinically affected; slow speech at age 2 years; intelligence regressed at age 3 years; seizures at age 3 years; movement dysfunction at age 3.5 years; EM showed curvilinear profile; deficient lysosomal tripeptidyl peptidase 1 activity; donor subject is a compound heterozygote: one allele has a G>A transition of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>A] and a second allele has an A>G transition at nucleotide 4188 in intron 7 of the CLN2 (TPP1) gene [4188A>G] resulting in an inframe insertion of 6 amino acids between G296 and R297 [IVS7-18].
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| Split Ratio |
1:2 |
| 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 |
- |
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