ID   iPS-SMA-3.5
AC   CVCL_C877
SY   iPS SMA 3.5; IPS-SMA-3.5; iPS-SMA3.5; iPS-SMA clone 3.5
DR   GEO; GSM347916
DR   ISCR; 313
DR   Wikidata; Q54898132
RX   PubMed=19098894;
CC   Problematic cell line: Misclassified. Parent cell line originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2).
CC   From: University of Wisconsin; Madison; USA.
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=19098894).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156310; Spinal muscular atrophy type 2
DI   ORDO; Orphanet_83418; Proximal spinal muscular atrophy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F172 ! GM03813
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 17
RX   PubMed=19098894; DOI=10.1038/nature07677;
RA   Ebert A.D., Yu J.-Y., Rose F.F. Jr., Mattis V.B., Lorson C.L.,
RA   Thomson J.A., Svendsen C.N.;
RT   "Induced pluripotent stem cells from a spinal muscular atrophy
RT   patient.";
RL   Nature 457:277-280(2009).