ID   GM24468
AC   CVCL_T825
SY   GM24468*D
DR   Coriell; GM24468
DR   SKIP; SKIP000254
DR   SKIP; SKIP004349
DR   Wikidata; Q54853763
CC   Problematic cell line: Misclassified. Parent cell line originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2).
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM24468).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156310; Spinal muscular atrophy type 2
DI   ORDO; Orphanet_83418; Proximal spinal muscular atrophy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F172 ! GM03813
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 17