GM23240
iPSC from Fibroblast
Description:
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
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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 (Lentiviral)
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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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47,XYY[2]/46,XY[48]
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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 |
33 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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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 |
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| Gene |
SMN1 |
| Chromosomal Location |
5q12.2-q13.3 |
| Allelic Variant 2 |
exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I |
| Identified Mutation |
EX7-8DEL |
| Cytogenetics |
Chromosome Y: ANEUPLOID Aneuploid Segment (+)Ypter->Yqter |
| Remarks |
Induced pluripotent stem cell line derived from GM03813 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, NANOG and LIN28 (Ebert et al. Nature 457:277-80, 2009); Clinically affected; born after full term uncomplicated pregnancy; rolled over at 6 months old; began babbling at 9 months old; by 12 months old, there was marked muscle atrophy and weakness; absent deep tendon reflexes; constipation; donor subject has 2 copies of the SMN2 gene; PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene; similarly affected brother (not in repository); mother is GM03814 (Fibro)/GM24474 (iPSC); father is GM03815 (Fibro); see GM03813 (Fibro) and GM24468 (iPSC - 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 WARF. |
| Sansa A, Miralles MP, Beltran M, Celma-Nos F, Calderó J, Garcera A, Soler RM, ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons Cell death discovery9:113 2023 |
| PubMed ID: 37019880 |
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| Khayrullina G, Alipio-Gloria ZA, Deguise MO, Gagnon S, Chehade L, Stinson M, Belous N, Bergman EM, Lischka FW, Rotty J, Dalgard CL, Kothary R, Johnson KA, Burnett BG, Survival motor neuron protein deficiency alters microglia reactivity Glia70:1337-1358 2022 |
| PubMed ID: 35373853 |
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| Sansa A, de la Fuente S, Comella JX, Garcera A, Soler RM, Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons Neurobiology of disease155:105366 2021 |
| PubMed ID: 33845129 |
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| Sansa A, Hidalgo I, Miralles MP, de la Fuente S, Perez-Garcia MJ, Munell F, Soler RM, Garcera A, Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons Acta neuropathologica communications9:122 2021 |
| PubMed ID: 34217376 |
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| Khayrullina G, Moritz KE, Schooley JF, Fatima N, Viollet C, McCormack NM, Smyth JT, Doughty ML, Dalgard CL, Flagg TP, Burnett BG, SMN-deficiency disrupts SERCA2 expression and intracellular Ca Skeletal muscle10:16 2020 |
| PubMed ID: 32384912 |
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| de la Fuente S, Sansa A, Hidalgo I, Vivancos N, Romero-Guevara R, Garcera A, Soler RM, Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models Cell death & disease11:487 2019 |
| PubMed ID: 32587237 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Ebert, A.D. and Svendsen, C.N., Stem Cell Model of Spinal Muscular Atrophy Arch Neurol67(6):665-669 2010 |
| PubMed ID: 20558385 |
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| Ebert, A.D.; Yu, J.; Ferrill, F.R.; Mattis, V.B.; Lorson, C.L.; Thomson, J.A.; and Svendsen, C.N., Induced pluripotent stem cells from a spinal muscular atrophy patient Nature457(7227):277-80 2009 |
| PubMed ID: 19098894 |
| View |
FISH Spectrum Orange detects SRY(Yp11.3),Spectrum Green detects DXZ1(Xp11.1-q11.1),DAPI counterstain |
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FISH Spectrum Orange detects SRY(Yp11.3),Spectrum Green detects DXZ1(Xp11.1-q11.1),DAPI counterstain |
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karyotype 46,XY |
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karyotype 47,XYY |
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karyotype 45,X |
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karyotype 46,XY |
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karyotype 47,XYY |
| Passage Frozen |
33 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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