ID   LUMCi004-A-3
AC   CVCL_E3P8
SY   IsoLUMC0099iXPA-B8; LUMCi099_XPA_B8
DR   BioSamples; SAMEA115580244
DR   hPSCreg; LUMCi004-A-3
RX   PubMed=39321748;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple_edited; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=39321748).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UK77 ! LUMCi004-A
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
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RX   PubMed=39321748; DOI=10.1016/j.scr.2024.103564;
RA   Widyastuti H.P., van der Vaart B., Pachis S.T., Freund C.M.A.H.,
RA   Gidrol X., Raymond K.;
RT   "Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling
RT   xeroderma pigmentosum group A.";
RL   Stem Cell Res. 81:103564-103564(2024).
//