GM20385
LCL from B-Lymphocyte
Description:
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2
Repository
|
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
|
Race
|
Not Reported
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
ISCN
|
46,XX[25].arr(1-22,X)x2
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Gene |
CLN2 |
Chromosomal Location |
11p15.5 |
Allelic Variant 1 |
607998.0004; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
Identified Mutation |
IVS5AS, G>C, -1; Sleat et al. [Science 277: 1802-1805, (1997)] described
compound heterozygosity in 2 sibs with LINCL. One allele carried the
arg208-to-ter nonsense mutation (204500.0003); the other allele showed a
splice site mutation, a G-to-C transversion of the consensus AG 3-prime
splice acceptor site immediately preceding 523T of the cDNA sequence. |
|
Gene |
CLN2 |
Chromosomal Location |
11p15.5 |
Allelic Variant 2 |
; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
Identified Mutation |
IVS5-1G>A |
Remarks |
Clinically affected; developmentally normal until age 3.5 years when a febrile seizure occurred; afebrile generalized tonic clonic seizures began a few months after the first febrile seizure; a MRI at age 4.3 years showed increased signal intensity on T1 and T2 weighted images with enlarged temporal horns and slightly prominent lateral ventricles; repeat MRI at age 5 years showed prominent ventricle and axial fluid spaces; EEG showed epileptic discharge bitemporarally; progressive ataxia, dysarthria, and dementia developed at age 5 years; at age 6 years receptive language was below the level of 4.5 years and expressive language was at 2 year old level; pale optic discs and partial blindness; increased sialorrhea; hypertonia; hyperactive deep tendon reflexes; equivocal plantar responses; wide-based gait with some circumduction; tremors and dysmetria; mixed profiles of curvilinear and fingerprints in enlarged lysosomes present in buffy-coat and skin biopsy; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] and a second 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]; same subject as GM27177 (stem cell). |
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 |
1:5 |
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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