ID   M3F-1
AC   CVCL_0H19
DR   SKIP; SKIP000611
DR   Wikidata; Q54903613
RX   PubMed=19269371;
CC   Sequence variation: Mutation; 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: 02-05-24; Version: 11
//
RX   PubMed=19269371; DOI=10.1016/j.cell.2009.02.013; PMCID=PMC2787236;
RA   Soldner F.F., Hockemeyer D., Beard C., Gao Q., Bell G.W., Cook E.G.,
RA   Hargus G., Blak A., Cooper O., Mitalipova M., Isacson O.,
RA   Jaenisch R.;
RT   "Parkinson's disease patient-derived induced pluripotent stem cells
RT   free of viral reprogramming factors.";
RL   Cell 136:964-977(2009).
//