ID   M3F-2
AC   CVCL_0H20
DR   SKIP; SKIP000612
DR   Wikidata; Q54903614
RX   PubMed=19269371;
CC   Sequence variation: Mutation; HGNC; HGNC:2890; DKC1; Simple; p.Leu37del (c.109_111delCTT); ClinVar=VCV000011583; Zygosity=Heterozygous (from familial inference of GM01774; GM01775).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0G94 ! GM01786
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 12
//
RX   PubMed=19269371; DOI=10.1016/j.cell.2009.02.013; PMCID=PMC2787236;
RA   Soldner, Frank F.
RA   Hockemeyer, Dirk
RA   Beard, Caroline
RA   Gao, Qing
RA   Bell, George W.
RA   Cook, Elizabeth G.
RA   Hargus, Gunnar
RA   Blak, Alexandra
RA   Cooper, Oliver
RA   Mitalipova, Maya
RA   Isacson, Ole
RA   Jaenisch, Rudolf
RT   "Parkinson's disease patient-derived induced pluripotent stem cells
RT   free of viral reprogramming factors.";
RL   Cell 136:964-977(2009).
//