ID   XP1MI 1
AC   CVCL_U763
SY   Xeroderma Pigmentosum 1 Miami 1; XPBHBE
DR   ATCC; CRL-1333
DR   Wikidata; Q54994979
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Pro334His (c.1001C>A); ClinVar=VCV000000253; Zygosity=Homozygous (from autologous cell line XP1MI 2).
CC   Discontinued: ATCC; CRL-1333; true.
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)
OI   CVCL_7351 ! XP1MI 2
OI   CVCL_F029 ! XP1MI LCL
SX   Female
AG   13Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 11
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