Cellosaurus logo
expasy logo

Cellosaurus SCTCi018-A (CVCL_B5T8)

[Text version]
Cell line name SCTCi018-A
Synonyms IPS15-00007
Accession CVCL_B5T8
Resource Identification Initiative To cite this cell line use: SCTCi018-A (RRID:CVCL_B5T8)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Derived from site: In situ; Finger, skin; UBERON=UBERON_0003533.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 34; ABCA4; Simple; c.4539+2001G>A; ClinVar=VCV00056042; Zygosity=Heterozygous (PubMed=37441824).
  • Mutation; HGNC; 34; ABCA4; Simple; p.Leu1631Pro (c.4892T>C); ClinVar=VCV000099328; Zygosity=Heterozygous (PubMed=37441824).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C9I2 (SCTCi018-A-1)
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell

PubMed=37441824; DOI=10.1016/j.scr.2023.103164
Karjosukarso D.W., Bukkems F., Duijkers L., Leijsten N., Hoyng C.B., Collin R.W.J.
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.
Stem Cell Res. 71:103164-103164(2023)

Cell line databases/resources hPSCreg; SCTCi018-A
Biological sample resources BioSamples; SAMEA11423530
Encyclopedic resources Wikidata; Q112044523
Entry history
Entry creation17-Mar-2022
Last entry update05-Oct-2023
Version number5