ID   LUMCi004-A-4
AC   CVCL_E4H5
SY   LUMCi099_XPC_D10
DR   BioSamples; SAMEA115580245
DR   hPSCreg; LUMCi004-A-4
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple_edited; p.Gln467Ter (c.1399C>T); ClinVar=VCV003240754; Zygosity=Homozygous; Note=By CRISPR/Cas9 (hPSCreg=LUMCi004-A-4).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
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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