GM20385

GM20385 LCL from B-Lymphocyte

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

Overview

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

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

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).

Characterizations

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

Phenotypic Data

Remarks

Publications

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