ID   PUMCHi001-A-1
AC   CVCL_YT12
SY   IPS-34-R-17; IPS34-R-17
DR   BioSamples; SAMEA7059978
DR   hPSCreg; PUMCHi001-A-1
DR   SKIP; SKIP005732
DR   Wikidata; Q98128715
RX   PubMed=32213461;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple_corrected; p.Arg349Trp (c.1045C>T); ClinVar=VCV000066762; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32213461).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165527; Familial partial lipodystrophy type 2
DI   ORDO; Orphanet_2348; Familial partial lipodystrophy, Dunnigan type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_YC52 ! PUMCHi001-A
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
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RX   PubMed=32213461; DOI=10.1016/j.scr.2020.101753;
RA   Xiao C., Yu M., Liu J.-Y., Wu H., Deng M.-Q., Zhang Q., Xiao X.-H.;
RT   "Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1)
RT   from a familial partial lipodystrophy type 2 (FPLD2) patient with a
RT   heterozygous R349W mutation in the LMNA gene.";
RL   Stem Cell Res. 44:101753-101753(2020).
//