GM16486
Fibroblast from Skin, Unspecified
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
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.82 |
| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
R127Q; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
ARG127GLN |
| |
| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
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. |
| Remarks |
CABM020; clinically affected; CLN2 protease deficient; donor subject is a compound heterozygote: one allele carries a G-to-A transition at nucleotide g.3085 (c.380G>A) which converts the arg-127 codon (CGA) to a Gln codon (CAA), resulting in a missense mutation in exon 4 of the CLN2 (TPP1) gene [ARG127GLN (R127Q)] and a second allele carries a G-to-C transversion in the invariant AG of a 3' splice junction in intron 5 at nucleotide g.3556 (IVS5-1G>C) of the CLN2 (TPP1) gene. |
| Martinez Legaspi S, Segatori L, Aggregation Behavior of Nanoparticle-Peptide Systems Affects Autophagy Bioconjugate chemistry: 2019 |
| PubMed ID: 31268689 |
| |
| Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W, Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses Orphanet journal of rare diseases13:54 2017 |
| PubMed ID: 29631617 |
| |
| Song W, Popp L, Yang J, Kumar A, Gangoli VS, Segatori L, The autophagic response to polystyrene nanoparticles is mediated by transcription factor EB and depends on surface charge Journal of nanobiotechnology13:87 2015 |
| PubMed ID: 26596266 |
| |
| Song W, Soo Lee S, Savini M, Popp L, Colvin VL, Segatori L, Ceria nanoparticles stabilized by organic surface coatings activate the lysosome-autophagy system and enhance autophagic clearance ACS nano8:10328-42 2014 |
| PubMed ID: 25315655 |
| |
| Vidal-Donet JM, Cárcel-Trullols J, Casanova B, Aguado C, Knecht E, Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts PloS one8:e55526 2012 |
| PubMed ID: 23408996 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|