GM27446
iPSC from Fibroblast
Description:
WOLMAN DISEASE
LIPASE A, LYSOSOMAL ACID; LIPA
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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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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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White
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Country of Origin
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USA
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Family Member
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3
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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[25].arr(1-22)x2,(X,Y)x1
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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 |
16 |
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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 |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 1 |
; |
| Identified Mutation |
Ex6 c.594dupT |
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| Gene |
LIPA |
| Chromosomal Location |
10q24-q25 |
| Allelic Variant 2 |
; |
| Identified Mutation |
Ex7 c.796G>T |
| Remarks |
Cell line ID: HT144A from parent fibroblast GM06144 - PMID 28659158; Hepatosplenomegaly; adrenal calcification; deficient lysosomal acid lipase activity; heterozygous for LIPA gene mutations c.594dupT(p.A199Cfs*13) and c.796G>T(p.G266X); mother is GM06123 (fibroblast); father is GM06122 (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. |
| Aguisanda F, Yeh CD, Chen CZ, Li R, Beers J, Zou J, Thorne N, Zheng W, Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics Orphanet journal of rare diseases12:120 2016 |
| PubMed ID: 28659158 |
| Passage Frozen |
16 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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