GM28380
iPSC from Fibroblast
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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Biopsy Source
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Skin
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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 (Sendai)
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Sample Source
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iPSC from Fibroblast
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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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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,XY[18]
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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 |
18 |
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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 |
R127Q; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
ARG127GLN |
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| 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 |
Cell line ID: HT264B from parental fibro GM16486 - PMID 29631617; 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. 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 Sendai-CytoTune.
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| 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 |
| Passage Frozen |
18 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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