ID   GM12609
AC   CVCL_V448
DR   CLO; CLO_0018084
DR   Coriell; GM12609
DR   Wikidata; Q54845897
CC   Sequence variation: Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Thr36Met (c.107C>T); ClinVar=VCV000004108; Zygosity=Unspecified (from autologous cell line GM12607).
CC   Sequence variation: Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Trp2736Gly (c.8206T>G); ClinVar=VCV000496527; Zygosity=Unspecified (from autologous cell line GM12607).
CC   Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84579; Autosomal recessive polycystic kidney disease
DI   ORDO; Orphanet_731; Autosomal recessive polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V447 ! GM12607
SX   Female
AG   6D
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
//