ID   ESi119-A
AC   CVCL_E3UV
SY   SPG FiPS1-Ep6F-4
DR   BioSamples; SAMEA115045326
DR   hPSCreg; ESi119-A
WW   https://www.isciii.es/documents/20119/70a2aaa5-b3ed-3677-afdb-ae273288c08b
WW   https://www.isciii.es/documents/20119/f9bdf1d9-76cf-c61c-a16a-cfbd98317bc5
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Biomedica de Bellvitge (IDIBELL); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:575; AP4S1; Simple; p.Arg97Ter (c.289C>T); ClinVar=VCV000234924; Zygosity=Homozygous (BNLC).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 8,12
ST   D16S539: 11,14
ST   D21S11: 28,29
ST   D5S818: 11,12
ST   D7S820: 8,11
ST   TH01: 6,9.3
ST   TPOX: 8
ST   vWA: 15
DI   NCIt; C212890; Spastic paraplegia 52, autosomal recessive
DI   ORDO; Orphanet_280763; Severe intellectual disability and progressive spastic paraplegia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//