GM27463
iPSC from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE A
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Protocols |
Protocol PDF |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Stem cell
|
|
Cell Subtype
|
Induced pluripotent stem cell
|
|
Transformant
|
Reprogrammed (Sendai)
|
|
Sample Source
|
iPSC from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ASHKENAZI
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
14 |
| |
| 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. |
| |
| Gene |
SMPD1 |
| Chromosomal Location |
11p15.4-p15.1 |
| Allelic Variant 1 |
607608.0010; NIEMANN-PICK DISEASE, TYPE A |
| Identified Mutation |
LEU302PRO; Levran et al. (Blood 80: 2081-2087, 1992) reported a T-to-C transition at nucleotide 905, predicting a leucine-to-proline substitution at SMPD1 codon 302 in 8 of 34 (23.5%) Ashkenazi type A Niemann-Pick disease (257200) alleles studied. In contrast, it was not found in any of the SMPD1 alleles from non-Jewish type A patients or in alleles from type B patients or in 100 SMPD1 alleles from normal Ashkenazi Jewish persons. Three mutations, R496L (607608.0001), 1-BP DEL, PRO330FS (607608.0011), and this mutation, account for about 65% of the mutant SMPD1 alleles in Ashkenazi Jewish type A Niemann-Pick disease patients. |
| |
| Gene |
SMPD1 |
| Chromosomal Location |
11p15.4-p15.1 |
| Allelic Variant 2 |
607608.0010; NIEMANN-PICK DISEASE, TYPE A |
| Identified Mutation |
LEU302PRO; Levran et al. (Blood 80: 2081-2087, 1992) reported a T-to-C transition at nucleotide 905, predicting a leucine-to-proline substitution at SMPD1 codon 302 in 8 of 34 (23.5%) Ashkenazi type A Niemann-Pick disease (257200) alleles studied. In contrast, it was not found in any of the SMPD1 alleles from non-Jewish type A patients or in alleles from type B patients or in 100 SMPD1 alleles from normal Ashkenazi Jewish persons. Three mutations, R496L (607608.0001), 1-BP DEL, PRO330FS (607608.0011), and this mutation, account for about 65% of the mutant SMPD1 alleles in Ashkenazi Jewish type A Niemann-Pick disease patients. |
| Remarks |
Cell line ID: HT138C from parental fibro GM16195 - PMID 27484861 (Corrigendum PMID 34310862); Clinically affected; organomegaly; neurological involvement; deceased; Type A; acid sphingomyelinase enzyme levels <1% of controls; the donor subject is homozygous for a T-to-C transition at nucleotide 905 (CTT>CCT) of the SPMD1 gene, resulting in a leucine-to-proline substitution at codon 302 [LEU302PRO (L302P)]; same subject as GM16195 (parental fibroblast). 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. |
| , CORRIGENDUM Stem cells translational medicine10:1360 2021 |
| PubMed ID: 34310862 |
| |
| Long Y, Xu M, Li R, Dai S, Beers J, Chen G, Soheilian F, Baxa U, Wang M, Marugan JJ, Muro S, Li Z, Brady R, Zheng W, Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A Stem cells translational medicine5:1644-1655 2015 |
| PubMed ID: 27484861 |
| Passage Frozen |
14 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Supplement |
- |
|