GM20377
LCL from B-Lymphocyte
Description:
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2
Repository
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NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage 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
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Gene |
CLN2 |
Chromosomal Location |
11p15.5 |
Allelic Variant 1 |
; CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 |
Identified Mutation |
c.376_380+6del |
|
Gene |
CLN2 |
Chromosomal Location |
11p15.5 |
Allelic Variant 2 |
607998.0003; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
Identified Mutation |
ARG208TER; In two sibs with late-infantile neuronal ceroid lipofuscinosis (LINCL), Sleat et al. [Science 277: 1802-1805, (1997)] found compound heterozygosity for a C-to-T transition that resulted in the conversion of codon 208 (CGA) to a stop codon (TGA). In the other allele, the conserved AG of the intronic 3-prime splice junction sequence was changed to AC, which was predicted to result in intron splicing (204500.0004). Each parent possessed a single different mutant allele. |
Remarks |
Clinically affected; speech and intelligence regression evident at age 2.5 years; seizures at age 3 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a 11-nucleotide deletion c.376_380+6del and a second allele has a C>T transition at nucleotide 622 in exon 6 of the CLN2 (TPP1) gene [622C>T] resulting in a substitution of a termination signal for arginine at codon 208 [Arg208Ter (R208X)]. |
Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT, Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med2(6):312-8 2000 |
PubMed ID: 11339651 |
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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