ID   CET.IPS.FFCYST-500
AC   CVCL_RM14
SY   iPSC FFCYST
DR   CLS; 300619
DR   Wikidata; Q54809353
WW   Provider; CET; CR1011-500; https://cet.bio/product/human-cystinosis-ipscs/
WW   Provider; JP2MRI; -; https://www.jp2mri.org/cystinosis
CC   From: Cellular Engineering Technologies (CET), Inc.; Coralville; USA.
CC   From: John Paul II Medical Research Institute; Coralville; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2518; CTNS; Simple; p.Thr7Phefs*7 (c.18_21delGACT); ClinVar=VCV000188834; Zygosity=Homozygous (from parent cell line).
CC   Discontinued: CLS; 300619; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129932; Nephropathic cystinosis
DI   ORDO; Orphanet_411629; Nephropathic infantile cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W237 ! GM17886
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 13
//