ID   SMA-iPS1
AC   CVCL_L670
DR   SKIP; SKIP005475
DR   Wikidata; Q54954920
RX   PubMed=22673189;
CC   From: Guangzhou Medical University; Guangzhou; China.
CC   HLA typing: A*24,26; B*60,55 (PubMed=22673189).
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7del; Zygosity=Unspecified (PubMed=22673189).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=22673189
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D12S391: 22,23
ST   D13S317: 8,11
ST   D16S539: 12
ST   D18S51: 13,15
ST   D19S433: 13,15
ST   D21S11: 29,30
ST   D2S1338: 18,22
ST   D3S1358: 17
ST   D5S818: 12
ST   D6S1043: 10,13
ST   D7S820: 11,12
ST   D8S1179: 14,16
ST   FGA: 22
ST   Penta D: 12,14
ST   Penta E: 14
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 17
DI   NCIt; C85075; Spinal muscular atrophy
DI   ORDO; Orphanet_70; Proximal spinal muscular atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L671 ! SMA-iPS2
SX   Female
AG   21FW
CA   Induced pluripotent stem cell
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 16
//
RX   PubMed=22673189; DOI=10.1262/jrd.2012-059;
RA   Luo Y.-M., Fan Y., Chen X.-J., Yu B.-L., Yue L., Wang D., Li Q.,
RA   Chen Y.-Y., Sun X.-F.;
RT   "Generation of induced pluripotent stem cells from Asian patients with
RT   chronic neurodegenerative diseases.";
RL   J. Reprod. Dev. 58:515-521(2012).
//