Cellosaurus cell line GM12607 (CVCL

Cell line name

GM12607

Accession

CVCL_V447

To cite this cell line use: GM12607 (RRID:CVCL_V447)

Comments

Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Thr36Met (c.107C>T); ClinVar=VCV000004108; Zygosity=Unspecified (PubMed=24009235).
Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Trp2736Gly (c.8206T>G); ClinVar=VCV000496527; Zygosity=Unspecified (PubMed=24009235).

Disease

Autosomal recessive polycystic kidney disease (NCIt: C84579)
Autosomal recessive polycystic kidney disease (ORDO: Orphanet_731)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_V453 (iPS ARPKD 5)

Originate from same individual

CVCL_V448 ! GM12609

Sex of cell

Female

Age at sampling