GM28078
iPSC from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE B
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
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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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Clinical summary/Case history
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ISCN
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46,XY[28]
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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 |
14 |
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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 |
SMPD1 |
| Chromosomal Location |
11p15.4-p15.1 |
| Allelic Variant 1 |
p.L43_A44delA; NIEMANN-PICK DISEASE, TYPE A |
| Identified Mutation |
p.L43_A44delLA |
| Remarks |
Cell line ID: TRNDi004-I (HT222I) from parent fibro GM11097 - PMID 31009819; hepatosplenomegaly; small umbilical hernia; foam cells in bone marrow; fibroblasts show a deficiency of sphingomyelinase activity; type B; tested and negative for the three most common mutations in SMPD1, i.e., R496L (607608.0001), L302P (607608.0010), and P330fsX382 (607608.0011); has a heterozygous mutation in the SMFD1 gene: p.L43_A44delLA; 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. |
| Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of pL43_A44delLA in the SMPD1 gene Stem cell research37:101436 2019 |
| PubMed ID: 31009819 |
| Passage Frozen |
14 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
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