GM20389
Fibroblast from Skin, Unspecified
Description:
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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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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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| PDL at Freeze |
6.32 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| palmitoyl-protein hydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.2.22 |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
Y247H; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
TYR247HIS |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
M1I; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE, CLN1 |
| Identified Mutation |
MET1ILE |
| Remarks |
Clinically affected; vision problems at age 5 years; intelligence declined by age 7 years; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 739 in exon 8 of the PPT1 gene [739T>C] resulting in a substitution of histidine for tyrosine at codon 247 [Tyr247His (Y247H)] and a second allele has a G>A transition at nucleotide 3 in exon 1 of the PPT1 gene [3G>A] resulting in a substitution of isoleucine for methionine at codon 1 [Met1Ile (M1I)]; culture grows slowly
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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 |
| Split Ratio |
1:1 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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