GM28227
iPSC from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
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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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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,XY[19]
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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 |
17 |
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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 |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
607623.0010; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ILE1061THR; In an initial study of 25 patients with type C1 Niemann-Pick disease, Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] identified a T-to-C transition at nucleotide 3182 of the NPC1 gene that led to an ile1061-to-thr substitution (I1061T) in 3 patients. The mutation, located in exon 21, affected a putative transmembrane domain of the protein. The mutation was particularly frequent in patients with NPC from western Europe, especially France and the U.K. and in Hispanic patients whose roots were in the Upper Rio Grande valley of the U.S. Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] concluded that the I1061T mutation originated in Europe and that the high frequency in northern Rio Grande Hispanics resulted from a founder effect. |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
607623.0010; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ILE1061THR; In an initial study of 25 patients with type C1 Niemann-Pick disease, Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] identified a T-to-C transition at nucleotide 3182 of the NPC1 gene that led to an ile1061-to-thr substitution (I1061T) in 3 patients. The mutation, located in exon 21, affected a putative transmembrane domain of the protein. The mutation was particularly frequent in patients with NPC from western Europe, especially France and the U.K. and in Hispanic patients whose roots were in the Upper Rio Grande valley of the U.S. Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] concluded that the I1061T mutation originated in Europe and that the high frequency in northern Rio Grande Hispanics resulted from a founder effect. |
| Remarks |
Cell line ID: TRNDi001-D (HT307D) from parent fibroblast GM18453 - PMID 32114296; Clinically affected; the donor subject is homozygous at the NPC1 gene locus: alleles 1 & 2 carry a substitution (T>C) at nucleotide 3182 (c.3182T>C) in exon 21, resulting in a missense mutation at codon 1061 [ I1061T (ILE1061THR); the first nucleotide of the initiating Met codon is numbered +1; fibroblasts showed 533 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay (normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al., 2003); 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. |
| Li R, Pradhan M, Xu M, Roeder A, Beers J, Zou J, Liu C, Porter FD, Zheng W, An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p I1061T (c 3182T>C) mutation in the NPC1 gene Stem cell research44:101737 2020 |
| PubMed ID: 32114296 |
| Passage Frozen |
17 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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