GM24474
iPSC from Fibroblast
Description:
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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 (Episomal)
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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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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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 |
20 |
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| Induced Pluripotent Stem Cell |
The cell line submitted to the Repository frozen 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 and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis. |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 1 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
| Remarks |
Induced pluripotent stem cell line derived from GM03814 by episomal reprogramming; clinically unaffected mother of two affected children: (1st child is GM03813/GM23240/GM24468 and 2nd child is not in repository); PCR analysis reveals donor subject has 2 copies of the SMN2 and is heterozygous for deletion of exons 7 and 8 in the SMN1 gene; unstable cytogentically; see GM03814 (Fibro) and ND41114/ND42240/ND42240 (iPSC clones-episomal); previously classified as SMA I, but data such as onset features and SMN2 dosage in the proband supported re-classification to SMA II. 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 iPS Academia Japan, Inc.. |
| Duc P, Vignes M, Hugon G, Sebban A, Carnac G, Malyshev E, Charlot B, Rage F, Human neuromuscular junction on micro-structured microfluidic devices implemented with a custom micro electrode array (MEA) Lab on a chip: 2021 |
| PubMed ID: 34559171 |
| Passage Frozen |
20 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
E8-Essential 8 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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