ID   CDMLi002-A
AC   CVCL_UG21
SY   FCP351G
DR   hPSCreg; CDMLi002-A
DR   Wikidata; Q93445930
RX   PubMed=30312871;
CC   From: Cancer Disease Modeling Laboratory, University of Texas Health Center at Houston; Houston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9949; RECQL4; Simple; c.1878+32_1878+55del24; Zygosity=Heterozygous; Note=Causes aberrant splicing (PubMed=30312871).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30312871; DOI=10.1016/j.scr.2018.10.003;
RA   Jewell B.E., Liu M., Lu L.-C., Zhou R.-J., Tu J., Zhu D.-D.,
RA   Huo Z.-J., Xu A., Wang D.-H., Mata H., Jin W.-D., Xia W.-Y., Rao P.H.,
RA   Zhao R.-Y., Hung M.-C., Wang L.L., Lee D.-F.;
RT   "Generation of an induced pluripotent stem cell line from an
RT   individual with a heterozygous RECQL4 mutation.";
RL   Stem Cell Res. 33:36-40(2018).
//