Cellosaurus cell line SCTCi018-A (CVCL

Cellosaurus SCTCi018-A (CVCL_B5T8)

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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; HGNC:34; ABCA4; Simple; c.4539+2001G>A; ClinVar=VCV00056042; Zygosity=Heterozygous (PubMed=37441824).
Mutation; HGNC; 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