GM27465
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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Ethnicity
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Hispanic/Latino
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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[20]
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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 |
15 |
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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 |
R127X; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
ARG127TER |
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| Gene |
CLN2 |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
607998.0003; CEROID LIPOFUSCINOSIS, NEURONAL 2 |
| Identified Mutation |
ARG208TER; In two sibs with late-infantile neuronal ceroid lipofuscinosis (LINCL), Sleat et al. [Science 277: 1802-1805, (1997)] found compound heterozygosity for a C-to-T transition that resulted in the conversion of codon 208 (CGA) to a stop codon (TGA). In the other allele, the conserved AG of the intronic 3-prime splice junction sequence was changed to AC, which was predicted to result in intron splicing (204500.0004). Each parent possessed a single different mutant allele. |
| Remarks |
Cell line ID: HT140A from parent fibroblast GM16485 - PMID 29631617; CABM011; clinically affected; seizures at 3 years of age, vision deterioration and cognitive dysfunction at 4 years of age; motor coordination dysfunction; CLN2 protease deficient; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide g.3084 (c.379C>T) which converts the arg-127 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 4 of the CLN2 (TPP1) gene [ARG127TER (R127X)] and a second allele carries a C-to-T transition at nucleotide g.3670 (c.622C>T) which converts the arg-208 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 6 of the CLN2 (TPP1) gene [ARG208TER (R208X)]. 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. |
| 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 |
15 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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