ID   XP23BE iPSC
AC   CVCL_C7PD
SY   AG28409; AG28409*B
DR   Coriell; AG28409
DR   Wikidata; Q117705021
CC   Population: Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Homozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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_X828 ! XP23BE
SX   Male
AG   21Y4M
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
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