GM27177
iPSC 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 |
| Protocols |
Protocol PDF |
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Episomal)
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Sample Source
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iPSC from B-Lymphocyte
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Race
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Not Reported
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Country of Origin
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USA
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Family Member
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1
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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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ISCN
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46,XX[25].arr(1-22,X)x2
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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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| Passage Frozen |
13 |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| 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. |
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| 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 GM20385 (LCL). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Passage Frozen |
13 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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